Canonical Allele Identifier: CA1442882
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 874835
dbSNP Id: rs371410845

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432575G>A , CM000663.2:g.229432575G>A GRCh38
NC_000001.10:g.229568322G>A , CM000663.1:g.229568322G>A GRCh37
NC_000001.9:g.227634945G>A NCBI36
NG_006672.1:g.6522C>T , LRG_429:g.6522C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.435C>T ENSP00000355644.4:p.Tyr145=
ENST00000684723.1:c.300C>T ENSP00000508084.1:p.Tyr100=
ENST00000366683.3:c.435C>T ENSP00000355644.3:p.Tyr145=
ENST00000366684.7:c.435C>T MANE Select ENSP00000355645.3:p.Tyr145=
NM_001100.3:c.435C>T , LRG_429t1:c.435C>T NP_001091.1:p.Tyr145=
NM_001100.4:c.435C>T MANE Select NP_001091.1:p.Tyr145=