Canonical Allele Identifier: CA423755210
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567886C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432139C>T , CM000663.2:g.229432139C>T GRCh38
NC_000001.10:g.229567886C>T , CM000663.1:g.229567886C>T GRCh37
NC_000001.9:g.227634509C>T NCBI36
NG_006672.1:g.6958G>A , LRG_429:g.6958G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.663G>A ENSP00000355644.4:p.Val221=
ENST00000684723.1:c.528G>A ENSP00000508084.1:p.Val176=
ENST00000366683.3:c.479+268G>A ENSP00000355644.3:n.479+268G>A
ENST00000366684.7:c.663G>A MANE Select ENSP00000355645.3:p.Val221=
NM_001100.3:c.663G>A , LRG_429t1:c.663G>A NP_001091.1:p.Val221=
NM_001100.4:c.663G>A MANE Select NP_001091.1:p.Val221=