Canonical Allele Identifier: CA423755258
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567916C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432169C>A , CM000663.2:g.229432169C>A GRCh38
NC_000001.10:g.229567916C>A , CM000663.1:g.229567916C>A GRCh37
NC_000001.9:g.227634539C>A NCBI36
NG_006672.1:g.6928G>T , LRG_429:g.6928G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.633G>T ENSP00000355644.4:p.Val211=
ENST00000684723.1:c.498G>T ENSP00000508084.1:p.Val166=
ENST00000366683.3:c.479+238G>T ENSP00000355644.3:n.479+238G>T
ENST00000366684.7:c.633G>T MANE Select ENSP00000355645.3:p.Val211=
NM_001100.3:c.633G>T , LRG_429t1:c.633G>T NP_001091.1:p.Val211=
NM_001100.4:c.633G>T MANE Select NP_001091.1:p.Val211=