Canonical Allele Identifier: CA1226125487
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431778G= , CM000663.2:g.229431778G= GRCh38
NC_000001.10:g.229567525G= , CM000663.1:g.229567525G= GRCh37
NC_000001.9:g.227634148G= NCBI36
NG_006672.1:g.7319C= , LRG_429:g.7319C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.933C= ENSP00000355644.4:p.Ile311=
ENST00000684723.1:c.798C= ENSP00000508084.1:p.Ile266=
ENST00000366683.3:c.564C= ENSP00000355644.3:p.Ile188=
ENST00000366684.7:c.933C= MANE Select ENSP00000355645.3:p.Ile311=
NM_001100.3:c.933C= , LRG_429t1:c.933C= NP_001091.1:p.Ile311=
NM_001100.4:c.933C= MANE Select NP_001091.1:p.Ile311=