Canonical Allele Identifier: CA1226125358
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431501A= , CM000663.2:g.229431501A= GRCh38
NC_000001.10:g.229567248A= , CM000663.1:g.229567248A= GRCh37
NC_000001.9:g.227633871A= NCBI36
NG_006672.1:g.7596T= , LRG_429:g.7596T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1054T= ENSP00000355644.4:p.Ter352=
ENST00000684723.1:c.997T= ENSP00000508084.1:p.Ter333=
ENST00000366683.3:c.763T= ENSP00000355644.3:p.Ter255=
ENST00000366684.7:c.1132T= MANE Select ENSP00000355645.3:p.Ter378=
NM_001100.3:c.1132T= , LRG_429t1:c.1132T= NP_001091.1:p.Ter378=
NM_001100.4:c.1132T= MANE Select NP_001091.1:p.Ter378=