ENST00000447966.7 ASIC1

Information
Transcript ID
ENST00000447966.7
Genome
hg19
Position
chr12:50,451,379-50,477,394
Strand
+
CDS length
1,587
Amino acid length
529
Gene symbol
ASIC1
Gene type
protein-coding
Gene description
acid sensing ion channel subunit 1
Gene Entrez Gene ID
41
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 50,451,379 50,451,699
2 50,452,534 50,452,911
3 50,453,542 50,453,737
4 50,470,996 50,471,146
5 50,471,783 50,471,910
6 50,472,204 50,472,360
7 50,472,707 50,472,763
8 50,473,685 50,473,838
9 50,474,281 50,474,372
10 50,474,885 50,474,964
11 50,475,043 50,475,147
12 50,475,328 50,477,394
CDS
Exon number Type Start Stop
2 CDS 50,452,550 50,452,911
3 CDS 50,453,542 50,453,737
4 CDS 50,470,996 50,471,146
5 CDS 50,471,783 50,471,910
6 CDS 50,472,204 50,472,360
7 CDS 50,472,707 50,472,763
8 CDS 50,473,685 50,473,838
9 CDS 50,474,281 50,474,372
10 CDS 50,474,885 50,474,964
11 CDS 50,475,043 50,475,147
12 CDS 50,475,328 50,475,432
Other genome
Genome Chromosome Start End Links
hg38 chr12 50,057,596 50,083,611 Link
CDS sequence
ATGGAACTGAAGGCCGAGGAGGAGGAGGTGGGTGGCGTCCAGCCGGTGAGCATCCAGGCCTTCGCCAGCAGCTCCACACTGCACGGCCTGGCCCACATCTTCTCCTACGAGCGGCTGTCTCTGAAGCGGGCACTGTGGGCCCTGTGCTTCCTGGGCTCCCTGGCTGTGCTGCTGTGTGTGTGCACGGAGCGTGTGCAGTACTACTTCCACTACCACCATGTCACCAAGCTCGACGAGGTGGCTGCCTCTCAGCTTACCTTCCCTGCTGTCACGCTGTGCAACCTCAACGAGTTCCGCTTTAGCCAAGTCTCCAAGAATGACCTGTATCATGCTGGGGAGCTGCTGGCCCTGCTCAACAACAGGTATGAGATACCAGACACACAGATGGCAGATGAAAAGCAGCTGGAGATACTGCAGGACAAAGCCAACTTCCGCAGCTTCAAACCCAAACCCTTCAACATGCGTGAGTTCTACGACCGAGCTGGGCACGACATTCGAGACATGCTGCTCTCCTGCCACTTCCGGGGGGAGGTCTGCAGCGCTGAAGACTTCAAGGTGGTCTTCACACGCTATGGAAAGTGCTACACGTTCAACTCGGGCCGAGATGGGCGGCCGCGGCTGAAGACCATGAAGGGTGGGACGGGCAATGGGCTGGAAATCATGCTGGACATCCAGCAGGACGAGTACCTGCCTGTGTGGGGGGAGACTGACGAGACGTCCTTCGAAGCAGGCATCAAAGTGCAGATCCATAGTCAGGATGAACCTCCTTTCATCGACCAGCTGGGCTTTGGCGTGGCCCCAGGCTTCCAGACCTTTGTGGCCTGCCAGGAGCAGCGGCTCATCTACCTGCCCCCACCCTGGGGCACCTGCAAAGCTGTTACCATGGACTCGGATTTGGATTTCTTCGACTCCTACAGCATCACTGCCTGCCGCATCGACTGTGAGACGCGCTACCTGGTGGAGAACTGCAACTGCCGCATGGTGCACATGCCAGGGGATGCCCCATACTGTACTCCAGAGCAGTACAAGGAGTGTGCAGATCCTGCTCTGGACTTCCTGGTGGAGAAGGACCAGGAGTACTGCGTGTGTGAAATGCCTTGCAACCTGACCCGCTATGGCAAAGAGCTGTCCATGGTCAAGATCCCCAGCAAAGCCTCAGCCAAGTACCTGGCCAAGAAGTTCAACAAATCTGAGCAATACATAGGGGAGAACATCCTGGTGCTGGACATTTTCTTTGAAGTCCTCAACTATGAGACCATTGAACAGAAGAAGGCCTATGAGATTGCAGGGCTCCTGGGTGACATCGGGGGCCAGATGGGGCTGTTCATCGGGGCCAGCATCCTCACGGTGCTGGAGCTCTTTGACTACGCCTACGAGGTCATTAAGCACAAGCTGTGCCGACGAGGAAAATGCCAGAAGGAGGCCAAAAGGAGCAGTGCGGACAAGGGCGTGGCCCTCAGCCTGGACGACGTCAAAAGACACAACCCGTGCGAGAGCCTTCGGGGCCACCCTGCCGGGATGACATACGCTGCCAACATCCTACCTCACCATCCGGCCCGAGGCACGTTCGAGGACTTTACCTGCTGA
Amino sequence
MELKAEEEEVGGVQPVSIQAFASSSTLHGLAHIFSYERLSLKRALWALCFLGSLAVLLCVCTERVQYYFHYHHVTKLDEVAASQLTFPAVTLCNLNEFRFSQVSKNDLYHAGELLALLNNRYEIPDTQMADEKQLEILQDKANFRSFKPKPFNMREFYDRAGHDIRDMLLSCHFRGEVCSAEDFKVVFTRYGKCYTFNSGRDGRPRLKTMKGGTGNGLEIMLDIQQDEYLPVWGETDETSFEAGIKVQIHSQDEPPFIDQLGFGVAPGFQTFVACQEQRLIYLPPPWGTCKAVTMDSDLDFFDSYSITACRIDCETRYLVENCNCRMVHMPGDAPYCTPEQYKECADPALDFLVEKDQEYCVCEMPCNLTRYGKELSMVKIPSKASAKYLAKKFNKSEQYIGENILVLDIFFEVLNYETIEQKKAYEIAGLLGDIGGQMGLFIGASILTVLELFDYAYEVIKHKLCRRGKCQKEAKRSSADKGVALSLDDVKRHNPCESLRGHPAGMTYAANILPHHPARGTFEDFTC*