Canonical Allele Identifier: CA1140915877
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431637G= , CM000663.2:g.229431637G= GRCh38
NC_000001.10:g.229567384G= , CM000663.1:g.229567384G= GRCh37
NC_000001.9:g.227634007G= NCBI36
NG_006672.1:g.7460C= , LRG_429:g.7460C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-73C= ENSP00000355644.4:n.991-73C=
ENST00000684723.1:c.861C= ENSP00000508084.1:p.Ile287=
ENST00000366683.3:c.627C= ENSP00000355644.3:p.Ile209=
ENST00000366684.7:c.996C= MANE Select ENSP00000355645.3:p.Ile332=
NM_001100.3:c.996C= , LRG_429t1:c.996C= NP_001091.1:p.Ile332=
NM_001100.4:c.996C= MANE Select NP_001091.1:p.Ile332=