Canonical Allele Identifier: CA423755347
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568036G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432289G>C , CM000663.2:g.229432289G>C GRCh38
NC_000001.10:g.229568036G>C , CM000663.1:g.229568036G>C GRCh37
NC_000001.9:g.227634659G>C NCBI36
NG_006672.1:g.6808C>G , LRG_429:g.6808C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.597C>G ENSP00000355644.4:p.Gly199=
ENST00000684723.1:c.462C>G ENSP00000508084.1:p.Gly154=
ENST00000366683.3:c.479+118C>G ENSP00000355644.3:n.479+118C>G
ENST00000366684.7:c.597C>G MANE Select ENSP00000355645.3:p.Gly199=
NM_001100.3:c.597C>G , LRG_429t1:c.597C>G NP_001091.1:p.Gly199=
NM_001100.4:c.597C>G MANE Select NP_001091.1:p.Gly199=