Canonical Allele Identifier: CA423755038
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567552C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431805C>G , CM000663.2:g.229431805C>G GRCh38
NC_000001.10:g.229567552C>G , CM000663.1:g.229567552C>G GRCh37
NC_000001.9:g.227634175C>G NCBI36
NG_006672.1:g.7292G>C , LRG_429:g.7292G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.906G>C ENSP00000355644.4:p.Ser302=
ENST00000684723.1:c.771G>C ENSP00000508084.1:p.Ser257=
ENST00000366683.3:c.537G>C ENSP00000355644.3:p.Ser179=
ENST00000366684.7:c.906G>C MANE Select ENSP00000355645.3:p.Ser302=
NM_001100.3:c.906G>C , LRG_429t1:c.906G>C NP_001091.1:p.Ser302=
NM_001100.4:c.906G>C MANE Select NP_001091.1:p.Ser302=