ENST00000550270.1 MYBPC1

Information
Transcript ID
ENST00000550270.1
Genome
hg38
Position
chr12:101,595,071-101,684,395
Strand
+
CDS length
3,426
Amino acid length
1,142
Gene symbol
MYBPC1
Gene type
protein-coding
Gene description
myosin binding protein C1
Gene Entrez Gene ID
4604
Variants

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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 :
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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 :
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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
1 101,595,071 101,595,095
2 101,614,496 101,614,531
3 101,617,202 101,617,243
4 101,629,434 101,629,544
5 101,631,571 101,631,719
6 101,632,021 101,632,138
7 101,634,554 101,634,605
8 101,636,672 101,636,728
9 101,642,419 101,642,585
10 101,644,664 101,644,796
11 101,646,763 101,646,887
12 101,648,045 101,648,150
13 101,649,260 101,649,426
14 101,651,231 101,651,393
15 101,652,678 101,652,784
16 101,653,115 101,653,248
17 101,659,672 101,659,831
18 101,661,158 101,661,262
19 101,662,358 101,662,546
20 101,663,426 101,663,560
21 101,666,744 101,666,797
22 101,667,732 101,667,899
23 101,670,321 101,670,409
24 101,673,427 101,673,622
25 101,675,292 101,675,431
26 101,677,235 101,677,394
27 101,678,102 101,678,238
28 101,680,343 101,680,529
29 101,684,382 101,684,395
CDS
Exon number Type Start Stop
1 CDS 101,595,071 101,595,095
2 CDS 101,614,496 101,614,531
3 CDS 101,617,202 101,617,243
4 CDS 101,629,434 101,629,544
5 CDS 101,631,571 101,631,719
6 CDS 101,632,021 101,632,138
7 CDS 101,634,554 101,634,605
8 CDS 101,636,672 101,636,728
9 CDS 101,642,419 101,642,585
10 CDS 101,644,664 101,644,796
11 CDS 101,646,763 101,646,887
12 CDS 101,648,045 101,648,150
13 CDS 101,649,260 101,649,426
14 CDS 101,651,231 101,651,393
15 CDS 101,652,678 101,652,784
16 CDS 101,653,115 101,653,248
17 CDS 101,659,672 101,659,831
18 CDS 101,661,158 101,661,262
19 CDS 101,662,358 101,662,546
20 CDS 101,663,426 101,663,560
21 CDS 101,666,744 101,666,797
22 CDS 101,667,732 101,667,899
23 CDS 101,670,321 101,670,409
24 CDS 101,673,427 101,673,622
25 CDS 101,675,292 101,675,431
26 CDS 101,677,235 101,677,394
27 CDS 101,678,102 101,678,238
28 CDS 101,680,343 101,680,529
29 CDS 101,684,382 101,684,395
Other genome
Genome Chromosome Start End Links
hg19 chr12 101,988,849 102,078,173 Link
CDS sequence
ATGCCAGAACCCACTAAGAAAGAGGAAAATGAAGTGCCAGCCCCAGCCCCACCCCCGGAAGAACCAAGTAAAGAGAAGGAGGCCGGAACTACACCAGCAAAAGACTGGACCCTTGTCGAAACTCCTCCTGGGGAGGAACAAGCCAAGCAGAATGCCAACTCCCAGCTGTCCATCTTGTTCATTGAAAAACCTCAAGGAGGAACAGTGAAAGTTGGTGAAGATATCACCTTCATAGCCAAAGTCAAGGCTGAAGATCTTCTGAGAAAACCCACTATCAAATGGTTCAAAGGAAAATGGATGGACCTGGCCAGCAAAGCCGGGAAGCACCTTCAGCTGAAGGAAACCTTTGAGAGGCACAGTCGGGTGTACACATTTGAGATGCAGATCATCAAGGCCAAAGATAACTTTGCAGGAAATTACAGATGCGAGGTCACCTATAAGGATAAGTTTGACAGCTGTTCATTTGATCTTGAAGTGCACGAATCTACTGGGACTACTCCAAACATTGACATCAGATCTGCTTTCAAGAGAAGTGGAGAAGGTCAAGAGGATGCAGGAGAACTTGACTTTAGTGGTCTCCTGAAACGTAGGGAGGTGAAGCAGCAGGAGGAAGAACCCCAGGTGGACGTATGGGAGTTGCTGAAGAACGCGAAACCCAGTGAGTACGAGAAGATCGCCTTCCAGTATGGAATCACCGACCTGCGCGGCATGCTCAAGCGACTCAAGCGCATGCGCAGAGAGGAGAAGAAGAGCGCAGCTTTTGCAAAAATTCTTGATCCTGCATATCAGGTTGACAAAGGAGGCAGAGTGAGGTTTGTTGTGGAGCTGGCAGATCCAAAGTTGGAGGTGAAATGGTATAAAAATGGTCAAGAAATTCGACCCAGTACCAAATACATCTTTGAACACAAAGGATGCCAGAGAATCCTGTTTATCAATAACTGTCAGATGACAGATGATTCAGAGTATTATGTGACAGCCGGTGATGAGAAATGTTCCACTGAGCTCTTCGTAAGAGAGCCTCCAATTATGGTGACCAAACAGCTGGAAGATACAACTGCTTATTGTGGGGAGAGAGTGGAATTAGAATGTGAGGTGTCTGAAGATGATGCCAATGTAAAATGGTTTAAGAATGGTGAAGAGATTATCCCTGGTCCAAAATCAAGATACCGAATTAGAGTTGAGGGTAAAAAACACATCTTGATCATAGAGGGAGCAACAAAGGCTGATGCTGCAGAATATTCAGTAATGACAACAGGAGGACAATCATCTGCTAAACTTAGTGTTGACTTGAAACCTCTGAAGATTTTGACACCTCTGACTGATCAGACTGTAAATCTTGGAAAAGAAATCTGCCTGAAGTGTGAAATCTCTGAAAACATACCAGGAAAATGGACTAAAAATGGCCTACCTGTTCAGGAGAGTGACCGTCTAAAGGTGGTTCACAAGGGAAGGATCCACAAGTTAGTGATAGCCAATGCCCTCACTGAAGATGAAGGTGATTATGTATTTGCACCTGATGCCTACAATGTTACTCTGCCTGCCAAAGTTCATGTTATTGATCCTCCTAAGATCATCCTGGATGGTCTTGATGCTGACAACACAGTGACAGTGATTGCAGGAAACAAGCTTCGTCTTGAGATCCCCATCAGCGGAGAACCACCTCCTAAAGCCATGTGGAGCCGGGGAGATAAGGCTATTATGGAAGGCAGTGGCCGGATAAGAACAGAATCTTACCCTGATAGCAGCACTCTGGTCATTGATATAGCTGAAAGAGATGACTCTGGTGTTTACCACATCAATCTGAAAAACGAAGCTGGAGAGGCACATGCAAGCATCAAGGTTAAAGTTGTGGACTTCCCTGATCCTCCAGTGGCACCGACTGTGACAGAGGTGGGAGATGACTGGTGTATCATGAACTGGGAGCCTCCTGCCTACGACGGAGGCTCTCCAATCCTAGGATATTTTATTGAGAGGAAGAAGAAACAAAGCTCCAGGTGGATGAGGCTGAATTTTGATCTCTGCAAAGAAACAACTTTTGAGCCCAAGAAGATGATTGAAGGTGTGGCCTATGAGGTCCGCATCTTTGCAGTCAATGCCATTGGCATCTCCAAGCCCAGTATGCCCTCCAGGCCTTTTGTTCCTTTGGCTGTAACAAGCCCTCCTACTCTTCTGACTGTGGACTCTGTCACTGACACGACTGTCACGATGAGGTGGCGCCCCCCAGACCACATTGGTGCAGCAGGTTTAGATGGCTATGTGCTAGAGTATTGCTTTGAAGGAAGTACATCAGCAAAACAGTCTGATGAAAATGGGGAGGCTGCCTATGATCTGCCAGCTGAGGACTGGATAGTTGCAAACAAAGATCTGATTGACAAGACGAAGTTCACCATCACAGGTCTGCCAACAGATGCAAAGATCTTTGTGCGTGTGAAGGCTGTTAATGCAGCTGGTGCCAGCGAGCCCAAGTACTATTCTCAGCCCATTCTCGTGAAGGAAATCATAGAACCTCCAAAGATTCGCATTCCAAGACACCTGAAGCAAACCTATATCCGCAGAGTTGGAGAAGCTGTCAATCTGGTTATACCTTTCCAGGGAAAACCAAGACCAGAATTAACTTGGAAGAAGGATGGTGCAGAAATTGATAAGAATCAAATAAACATTCGCAACTCTGAGACTGATACAATCATATTTATTAGAAAAGCAGAGAGGAGCCACTCTGGGAAATATGATCTGCAAGTCAAAGTGGACAAATTCGTGGAGACCGCATCAATTGACATCCAGATCATTGACCGTCCAGGTCCACCCCAAATTGTGAAGATTGAGGATGTCTGGGGAGAAAATGTCGCTCTCACATGGACTCCACCAAAGGATGATGGAAATGCTGCTATCACAGGCTATACCATTCAGAAGGCTGACAAGAAGAGCATGGAATGGTTTACTGTCATTGAGCATTATCATCGAACCAGTGCCACCATTACTGAATTGGTCATAGGGAATGAATATTACTTCCGGGTCTTTTCTGAAAACATGTGTGGCCTCAGTGAGGATGCCACCATGACTAAAGAGAGTGCAGTGATCGCCAGGGATGGTAAAATCTACAAAAATCCAGTGTATGAAGACTTTGATTTCTCAGAGGCACCCATGTTTACTCAGCCTTTGGTTAACACCTATGCCATAGCTGGTTACAATGCCACCCTAAACTGCAGTGTGAGAGGAAATCCTAAGCCTAAAATAACCTGGATGAAAAACAAAGTTGCTATTGTGGATGATCCAAGATACAGGATGTTCAGCAACCAGGGAGTCTGTACCCTGGAAATTCGCAAGCCCAGCCCCTATGATGGAGGCACTTACTGCTGCAAAGCAGTCAATGACCTTGGGACAGTGGAGATTGAATGCAAACTGGAGGTGAAAGTCATTGCACAATAA
Amino sequence
MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILFIEKPQGGTVKVGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHSRVYTFEMQIIKAKDNFAGNYRCEVTYKDKFDSCSFDLEVHESTGTTPNIDIRSAFKRSGEGQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKIAFQYGITDLRGMLKRLKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIFEHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLEDTTAYCGERVELECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGGQSSAKLSVDLKPLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVVHKGRIHKLVIANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKIILDGLDADNTVTVIAGNKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHINLKNEAGEAHASIKVKVVDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKKKQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAIGISKPSMPSRPFVPLAVTSPPTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDENGEAAYDLPAEDWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYSQPILVKEIIEPPKIRIPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRKAERSHSGKYDLQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGNAAITGYTIQKADKKSMEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMTKESAVIARDGKIYKNPVYEDFDFSEAPMFTQPLVNTYAIAGYNATLNCSVRGNPKPKITWMKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDLGTVEIECKLEVKVIAQ*