Canonical Allele Identifier: CA423755118
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567841G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432094G>T , CM000663.2:g.229432094G>T GRCh38
NC_000001.10:g.229567841G>T , CM000663.1:g.229567841G>T GRCh37
NC_000001.9:g.227634464G>T NCBI36
NG_006672.1:g.7003C>A , LRG_429:g.7003C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.708C>A ENSP00000355644.4:p.Ser236=
ENST00000684723.1:c.573C>A ENSP00000508084.1:p.Ser191=
ENST00000366683.3:c.480-232C>A ENSP00000355644.3:n.480-232C>A
ENST00000366684.7:c.708C>A MANE Select ENSP00000355645.3:p.Ser236=
NM_001100.3:c.708C>A , LRG_429t1:c.708C>A NP_001091.1:p.Ser236=
NM_001100.4:c.708C>A MANE Select NP_001091.1:p.Ser236=