Canonical Allele Identifier: CA1226125651
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432110G= , CM000663.2:g.229432110G= GRCh38
NC_000001.10:g.229567857G= , CM000663.1:g.229567857G= GRCh37
NC_000001.9:g.227634480G= NCBI36
NG_006672.1:g.6987C= , LRG_429:g.6987C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.692C= ENSP00000355644.4:p.Thr231=
ENST00000684723.1:c.557C= ENSP00000508084.1:p.Thr186=
ENST00000366683.3:c.480-248C= ENSP00000355644.3:n.480-248C=
ENST00000366684.7:c.692C= MANE Select ENSP00000355645.3:p.Thr231=
NM_001100.3:c.692C= , LRG_429t1:c.692C= NP_001091.1:p.Thr231=
NM_001100.4:c.692C= MANE Select NP_001091.1:p.Thr231=