Canonical Allele Identifier: CA1226125378
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431551T= , CM000663.2:g.229431551T= GRCh38
NC_000001.10:g.229567298T= , CM000663.1:g.229567298T= GRCh37
NC_000001.9:g.227633921T= NCBI36
NG_006672.1:g.7546A= , LRG_429:g.7546A=

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.1004A= ENSP00000355644.4:p.Lys335=
ENST00000684723.1:c.947A= ENSP00000508084.1:p.Lys316=
ENST00000366683.3:c.713A= ENSP00000355644.3:p.Lys238=
ENST00000366684.7:c.1082A= MANE Select ENSP00000355645.3:p.Lys361=
NM_001100.3:c.1082A= , LRG_429t1:c.1082A= NP_001091.1:p.Lys361=
NM_001100.4:c.1082A= MANE Select NP_001091.1:p.Lys361=