Canonical Allele Identifier: CA423754809
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567279G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431532G>C , CM000663.2:g.229431532G>C GRCh38
NC_000001.10:g.229567279G>C , CM000663.1:g.229567279G>C GRCh37
NC_000001.9:g.227633902G>C NCBI36
NG_006672.1:g.7565C>G , LRG_429:g.7565C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1023C>G ENSP00000355644.4:p.Ala341=
ENST00000684723.1:c.966C>G ENSP00000508084.1:p.Ala322=
ENST00000366683.3:c.732C>G ENSP00000355644.3:p.Ala244=
ENST00000366684.7:c.1101C>G MANE Select ENSP00000355645.3:p.Ala367=
NM_001100.3:c.1101C>G , LRG_429t1:c.1101C>G NP_001091.1:p.Ala367=
NM_001100.4:c.1101C>G MANE Select NP_001091.1:p.Ala367=