Canonical Allele Identifier: CA345145613
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431780T>C , CM000663.2:g.229431780T>C GRCh38
NC_000001.10:g.229567527T>C , CM000663.1:g.229567527T>C GRCh37
NC_000001.9:g.227634150T>C NCBI36
NG_006672.1:g.7317A>G , LRG_429:g.7317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.931A>G ENSP00000355644.4:p.Ile311Val
ENST00000684723.1:c.796A>G ENSP00000508084.1:p.Ile266Val
ENST00000366683.3:c.562A>G ENSP00000355644.3:p.Ile188Val
ENST00000366684.7:c.931A>G MANE Select ENSP00000355645.3:p.Ile311Val
NM_001100.3:c.931A>G , LRG_429t1:c.931A>G NP_001091.1:p.Ile311Val
NM_001100.4:c.931A>G MANE Select NP_001091.1:p.Ile311Val