Canonical Allele Identifier: CA128033
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229431626T>G
GRCh37 chr1:g.229567373T>G
Revel Score:
ENST00000366684 (MANE Select) 0.874
ENST00000308794 0.874
ENST00000366683 0.874
ENST00000366682 0.874
ENST00000342787 0.874
ClinVar RCV:
RCV003148623
ClinVar Variation:
18288
dbSNP:
121909528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431626T>G , CM000663.2:g.229431626T>G GRCh38
NC_000001.10:g.229567373T>G , CM000663.1:g.229567373T>G GRCh37
NC_000001.9:g.227633996T>G NCBI36
NG_006672.1:g.7471A>C , LRG_429:g.7471A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-62A>C ENSP00000355644.4:n.991-62A>C
ENST00000684723.1:c.872A>C ENSP00000508084.1:p.Glu291Ala
ENST00000366683.3:c.638A>C ENSP00000355644.3:p.Glu213Ala
ENST00000366684.7:c.1007A>C MANE Select ENSP00000355645.3:p.Glu336Ala
NM_001100.3:c.1007A>C , LRG_429t1:c.1007A>C NP_001091.1:p.Glu336Ala
NM_001100.4:c.1007A>C MANE Select NP_001091.1:p.Glu336Ala
Search 100 bp 5'
Search 100 bp 3'