Canonical Allele Identifier: CA345144029
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532768
ClinVar RCV Id: RCV000639665
dbSNP Id: rs1553255288

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431501A>G , CM000663.2:g.229431501A>G GRCh38
NC_000001.10:g.229567248A>G , CM000663.1:g.229567248A>G GRCh37
NC_000001.9:g.227633871A>G NCBI36
NG_006672.1:g.7596T>C , LRG_429:g.7596T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.1054T>C ENSP00000355644.4:p.Ter352Gln
ENST00000684723.1:c.997T>C ENSP00000508084.1:p.Ter333Gln
ENST00000366683.3:c.763T>C ENSP00000355644.3:p.Ter255Gln
ENST00000366684.7:c.1132T>C MANE Select ENSP00000355645.3:p.Ter378Gln
NM_001100.3:c.1132T>C , LRG_429t1:c.1132T>C NP_001091.1:p.Ter378Gln
NM_001100.4:c.1132T>C MANE Select NP_001091.1:p.Ter378Gln