Canonical Allele Identifier: CA345144070
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567252G>T (hg19) chr1:g.229431505G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431505G>T , CM000663.2:g.229431505G>T GRCh38
NC_000001.10:g.229567252G>T , CM000663.1:g.229567252G>T GRCh37
NC_000001.9:g.227633875G>T NCBI36
NG_006672.1:g.7592C>A , LRG_429:g.7592C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1050C>A ENSP00000355644.4:p.Cys350Ter
ENST00000684723.1:c.993C>A ENSP00000508084.1:p.Cys331Ter
ENST00000366683.3:c.759C>A ENSP00000355644.3:p.Cys253Ter
ENST00000366684.7:c.1128C>A MANE Select ENSP00000355645.3:p.Cys376Ter
NM_001100.3:c.1128C>A , LRG_429t1:c.1128C>A NP_001091.1:p.Cys376Ter
NM_001100.4:c.1128C>A MANE Select NP_001091.1:p.Cys376Ter
Search 100 bp 5'
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