Canonical Allele Identifier: CA345144813
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431612C>G , CM000663.2:g.229431612C>G GRCh38
NC_000001.10:g.229567359C>G , CM000663.1:g.229567359C>G GRCh37
NC_000001.9:g.227633982C>G NCBI36
NG_006672.1:g.7485G>C , LRG_429:g.7485G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-48G>C ENSP00000355644.4:n.991-48G>C
ENST00000684723.1:c.886G>C ENSP00000508084.1:p.Val296Leu
ENST00000366683.3:c.652G>C ENSP00000355644.3:p.Val218Leu
ENST00000366684.7:c.1021G>C MANE Select ENSP00000355645.3:p.Val341Leu
NM_001100.3:c.1021G>C , LRG_429t1:c.1021G>C NP_001091.1:p.Val341Leu
NM_001100.4:c.1021G>C MANE Select NP_001091.1:p.Val341Leu