Canonical Allele Identifier: CA345144188
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464115
ClinVar RCV Id: RCV000531952
dbSNP Id: rs1553255290
COSMIC: COSM393967
MyVariant Identifiers: chr1:g.229567271G>T (hg19) chr1:g.229431524G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431524G>T , CM000663.2:g.229431524G>T GRCh38
NC_000001.10:g.229567271G>T , CM000663.1:g.229567271G>T GRCh37
NC_000001.9:g.227633894G>T NCBI36
NG_006672.1:g.7573C>A , LRG_429:g.7573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1031C>A ENSP00000355644.4:p.Ser344Tyr
ENST00000684723.1:c.974C>A ENSP00000508084.1:p.Ser325Tyr
ENST00000366683.3:c.740C>A ENSP00000355644.3:p.Ser247Tyr
ENST00000366684.7:c.1109C>A MANE Select ENSP00000355645.3:p.Ser370Tyr
NM_001100.3:c.1109C>A , LRG_429t1:c.1109C>A NP_001091.1:p.Ser370Tyr
NM_001100.4:c.1109C>A MANE Select NP_001091.1:p.Ser370Tyr
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