Canonical Allele Identifier: CA1442848
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs757701835
ExAC: 1:229568156 G / A
gnomAD v2: 1-229568156-G-A
gnomAD v4: 1-229432409-G-A
COSMIC: COSM4029315
MyVariant Identifiers: chr1:g.229568156G>A (hg19) chr1:g.229432409G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432409G>A , CM000663.2:g.229432409G>A GRCh38
NC_000001.10:g.229568156G>A , CM000663.1:g.229568156G>A GRCh37
NC_000001.9:g.227634779G>A NCBI36
NG_006672.1:g.6688C>T , LRG_429:g.6688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.477C>T ENSP00000355644.4:p.Asp159=
ENST00000684723.1:c.342C>T ENSP00000508084.1:p.Asp114=
ENST00000366683.3:c.477C>T ENSP00000355644.3:p.Asp159=
ENST00000366684.7:c.477C>T MANE Select ENSP00000355645.3:p.Asp159=
NM_001100.3:c.477C>T , LRG_429t1:c.477C>T NP_001091.1:p.Asp159=
NM_001100.4:c.477C>T MANE Select NP_001091.1:p.Asp159=
Search 100 bp 5'
Search 100 bp 3'