Canonical Allele Identifier: CA344560
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432181C>G
GRCh37 chr1:g.229567928C>G
Revel Score:
ENST00000366684 (MANE Select) 0.789
ENST00000366683 0.789
ENST00000366682 0.789
ClinVar RCV:
RCV000034935
ClinVar Variation:
42108
dbSNP:
367543050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432181C>G , CM000663.2:g.229432181C>G GRCh38
NC_000001.10:g.229567928C>G , CM000663.1:g.229567928C>G GRCh37
NC_000001.9:g.227634551C>G NCBI36
NG_006672.1:g.6916G>C , LRG_429:g.6916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.621G>C ENSP00000355644.4:p.Glu207Asp
ENST00000684723.1:c.486G>C ENSP00000508084.1:p.Glu162Asp
ENST00000366683.3:c.479+226G>C ENSP00000355644.3:n.479+226G>C
ENST00000366684.7:c.621G>C MANE Select ENSP00000355645.3:p.Glu207Asp
NM_001100.3:c.621G>C , LRG_429t1:c.621G>C NP_001091.1:p.Glu207Asp
NM_001100.4:c.621G>C MANE Select NP_001091.1:p.Glu207Asp
Search 100 bp 5'
Search 100 bp 3'