Canonical Allele Identifier: CA345144212
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431527G>C , CM000663.2:g.229431527G>C GRCh38
NC_000001.10:g.229567274G>C , CM000663.1:g.229567274G>C GRCh37
NC_000001.9:g.227633897G>C NCBI36
NG_006672.1:g.7570C>G , LRG_429:g.7570C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1028C>G ENSP00000355644.4:p.Pro343Arg
ENST00000684723.1:c.971C>G ENSP00000508084.1:p.Pro324Arg
ENST00000366683.3:c.737C>G ENSP00000355644.3:p.Pro246Arg
ENST00000366684.7:c.1106C>G MANE Select ENSP00000355645.3:p.Pro369Arg
NM_001100.3:c.1106C>G , LRG_429t1:c.1106C>G NP_001091.1:p.Pro369Arg
NM_001100.4:c.1106C>G MANE Select NP_001091.1:p.Pro369Arg