Canonical Allele Identifier: CA423755331
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568030G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432283G>C , CM000663.2:g.229432283G>C GRCh38
NC_000001.10:g.229568030G>C , CM000663.1:g.229568030G>C GRCh37
NC_000001.9:g.227634653G>C NCBI36
NG_006672.1:g.6814C>G , LRG_429:g.6814C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.603C>G ENSP00000355644.4:p.Ser201=
ENST00000684723.1:c.468C>G ENSP00000508084.1:p.Ser156=
ENST00000366683.3:c.479+124C>G ENSP00000355644.3:n.479+124C>G
ENST00000366684.7:c.603C>G MANE Select ENSP00000355645.3:p.Ser201=
NM_001100.3:c.603C>G , LRG_429t1:c.603C>G NP_001091.1:p.Ser201=
NM_001100.4:c.603C>G MANE Select NP_001091.1:p.Ser201=