Canonical Allele Identifier: CA345144079
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2442103
ClinVar RCV Id: RCV003148426
MyVariant Identifiers: chr1:g.229567253C>T (hg19) chr1:g.229431506C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431506C>T , CM000663.2:g.229431506C>T GRCh38
NC_000001.10:g.229567253C>T , CM000663.1:g.229567253C>T GRCh37
NC_000001.9:g.227633876C>T NCBI36
NG_006672.1:g.7591G>A , LRG_429:g.7591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1049G>A ENSP00000355644.4:p.Cys350Tyr
ENST00000684723.1:c.992G>A ENSP00000508084.1:p.Cys331Tyr
ENST00000366683.3:c.758G>A ENSP00000355644.3:p.Cys253Tyr
ENST00000366684.7:c.1127G>A MANE Select ENSP00000355645.3:p.Cys376Tyr
NM_001100.3:c.1127G>A , LRG_429t1:c.1127G>A NP_001091.1:p.Cys376Tyr
NM_001100.4:c.1127G>A MANE Select NP_001091.1:p.Cys376Tyr
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