Canonical Allele Identifier: CA423755142
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567850G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432103G>T , CM000663.2:g.229432103G>T GRCh38
NC_000001.10:g.229567850G>T , CM000663.1:g.229567850G>T GRCh37
NC_000001.9:g.227634473G>T NCBI36
NG_006672.1:g.6994C>A , LRG_429:g.6994C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.699C>A ENSP00000355644.4:p.Ala233=
ENST00000684723.1:c.564C>A ENSP00000508084.1:p.Ala188=
ENST00000366683.3:c.480-241C>A ENSP00000355644.3:n.480-241C>A
ENST00000366684.7:c.699C>A MANE Select ENSP00000355645.3:p.Ala233=
NM_001100.3:c.699C>A , LRG_429t1:c.699C>A NP_001091.1:p.Ala233=
NM_001100.4:c.699C>A MANE Select NP_001091.1:p.Ala233=