Canonical Allele Identifier: CA423755098
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567835C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432088C>A , CM000663.2:g.229432088C>A GRCh38
NC_000001.10:g.229567835C>A , CM000663.1:g.229567835C>A GRCh37
NC_000001.9:g.227634458C>A NCBI36
NG_006672.1:g.7009G>T , LRG_429:g.7009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.714G>T ENSP00000355644.4:p.Leu238=
ENST00000684723.1:c.579G>T ENSP00000508084.1:p.Leu193=
ENST00000366683.3:c.480-226G>T ENSP00000355644.3:n.480-226G>T
ENST00000366684.7:c.714G>T MANE Select ENSP00000355645.3:p.Leu238=
NM_001100.3:c.714G>T , LRG_429t1:c.714G>T NP_001091.1:p.Leu238=
NM_001100.4:c.714G>T MANE Select NP_001091.1:p.Leu238=