ENST00000393043.5 CLTC

Information
Transcript ID
ENST00000393043.5
Genome
hg19
Position
chr17:57,697,219-57,768,187
Strand
+
CDS length
4,920
Amino acid length
1,640
Gene symbol
CLTC
Gene type
protein-coding
Gene description
clathrin heavy chain
Gene Entrez Gene ID
1213
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 57,697,219 57,697,534
2 57,721,637 57,721,844
3 57,724,759 57,725,027
4 57,725,601 57,725,762
5 57,728,564 57,728,677
6 57,733,215 57,733,388
7 57,737,752 57,737,949
8 57,738,804 57,739,004
9 57,741,203 57,741,355
10 57,742,148 57,742,270
11 57,743,464 57,743,601
12 57,743,841 57,744,005
13 57,744,158 57,744,338
14 57,746,138 57,746,301
15 57,751,008 57,751,133
16 57,752,062 57,752,204
17 57,754,315 57,754,549
18 57,756,758 57,756,880
19 57,758,273 57,758,418
20 57,758,656 57,758,839
21 57,759,008 57,759,200
22 57,759,632 57,759,789
23 57,759,990 57,760,154
24 57,760,268 57,760,375
25 57,760,456 57,760,623
26 57,760,748 57,760,897
27 57,760,986 57,761,117
28 57,761,236 57,761,346
29 57,762,417 57,762,587
30 57,762,948 57,763,169
31 57,767,997 57,768,187
CDS
Exon number Type Start Stop
1 CDS 57,697,493 57,697,534
2 CDS 57,721,637 57,721,844
3 CDS 57,724,759 57,725,027
4 CDS 57,725,601 57,725,762
5 CDS 57,728,564 57,728,677
6 CDS 57,733,215 57,733,388
7 CDS 57,737,752 57,737,949
8 CDS 57,738,804 57,739,004
9 CDS 57,741,203 57,741,355
10 CDS 57,742,148 57,742,270
11 CDS 57,743,464 57,743,601
12 CDS 57,743,841 57,744,005
13 CDS 57,744,158 57,744,338
14 CDS 57,746,138 57,746,301
15 CDS 57,751,008 57,751,133
16 CDS 57,752,062 57,752,204
17 CDS 57,754,315 57,754,549
18 CDS 57,756,758 57,756,880
19 CDS 57,758,273 57,758,418
20 CDS 57,758,656 57,758,839
21 CDS 57,759,008 57,759,200
22 CDS 57,759,632 57,759,789
23 CDS 57,759,990 57,760,154
24 CDS 57,760,268 57,760,375
25 CDS 57,760,456 57,760,623
26 CDS 57,760,748 57,760,897
27 CDS 57,760,986 57,761,117
28 CDS 57,761,236 57,761,346
29 CDS 57,762,417 57,762,587
30 CDS 57,762,948 57,763,169
31 CDS 57,767,997 57,768,089
Other genome
Genome Chromosome Start End Links
hg38 chr17 59,619,858 59,690,826 Link
CDS sequence
ATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAGCTCCAGAACCTGGGTATCAACCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGATATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGCTGGGAAAACTCTTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCTTGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATCAATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAGCAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATAGGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCGGGGCCAAGCTGGAGGGAAGTTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCAGAAGCACAAAATGATTTTCCTGTTGCAATGCAGATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTGAGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAAGGGACAAGTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCTTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAGGGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTCCCAGCCCAGCCAGGTCAAACTTCTCCTCTACTTCAGTACTTTGGTATCCTTTTGGACCAGGGACAGCTCAACAAATACGAATCCTTAGAGCTTTGTAGGCCTGTACTTCAGCAAGGGCGAAAACAGCTTTTGGAGAAATGGTTAAAAGAAGATAAGCTGGAATGTTCTGAAGAACTGGGTGATCTTGTGAAATCTGTGGACCCTACATTGGCACTTAGTGTGTACCTAAGGGCTAACGTCCCAAATAAAGTCATTCAGTGCTTTGCAGAAACAGGTCAAGTCCAAAAGATTGTTTTATATGCTAAAAAAGTTGGATACACTCCAGATTGGATATTTCTGCTGAGAAATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGATTGTAGATGTCTTTATGGAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGAACCTTATGCATGCGCCTCAAGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGGCCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGTGGTTAGTCAACTACTTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTAAATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTTTAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTACGATCCTGAGCGAGTCAAGAATTTTCTTAAGGAAGCAAAACTAACAGATCAGCTACCACTTATCATTGTGTGTGATCGATTTGACTTTGTCCATGATTTGGTGCTCTATTTATATAGAAATAATCTTCAAAAGTATATAGAGATATATGTACAGAAGGTGAATCCAAGTCGACTTCCTGTAGTTATTGGAGGATTACTTGATGTTGACTGTTCTGAAGATGTCATAAAAAACTTGATTCTTGTTGTAAGAGGTCAATTCTCTACTGATGAGCTTGTTGCTGAGGTTGAAAAAAGAAACAGATTGAAACTGCTTCTGCCTTGGCTAGAGGCCAGAATTCATGAGGGCTGTGAGGAGCCTGCTACTCACAATGCCTTAGCCAAAATCTACATAGACAGTAATAACAACCCGGAGAGATTTCTTCGTGAAAATCCCTACTATGACAGTCGCGTTGTTGGAAAGTATTGTGAGAAGAGAGATCCACATCTGGCCTGTGTTGCTTATGAACGTGGCCAATGTGATCTGGAACTTATTAATGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAATTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAGTGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACACAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGATATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTCTTAATTGAGCATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGTGAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGAAACTGGGAAGAACTGGTGAAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAGAATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGTTTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAAGAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCAACTACTATCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGCTATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTGCTAAGAGCTGCAGAACAAGCTCATCTTTGGGCAGAACTGGTGTTTTTGTATGACAAGTATGAAGAATATGATAATGCCATAATTACCATGATGAATCATCCAACTGATGCCTGGAAAGAAGGGCAATTCAAAGATATCATTACCAAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGCTCTGCGAACATCAATAGATGCTTATGACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTGGAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTGCAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGATGTCGTCCTAGAAACTGCATGGAGGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTGGATAAATTAGATGCTTCAGAATCACTGAGAAAAGAAGAAGAACAAGCTACAGAGACACAACCCATTGTTTATGGTAATCTCTCTCTGTAA
Amino sequence
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISGETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAILGNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYYDSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQVGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLEKHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLRKEEEQATETQPIVYGNLSL*