Canonical Allele Identifier: CA345147944
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432295C>G
GRCh37 chr1:g.229568042C>G
Revel Score:
ENST00000366684 (MANE Select) 0.604
ENST00000366682 0.604
ClinVar RCV:
RCV002253082
ClinVar Variation:
1690664
dbSNP:
869312739
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432295C>G , CM000663.2:g.229432295C>G GRCh38
NC_000001.10:g.229568042C>G , CM000663.1:g.229568042C>G GRCh37
NC_000001.9:g.227634665C>G NCBI36
NG_006672.1:g.6802G>C , LRG_429:g.6802G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.591G>C ENSP00000355644.4:p.Glu197Asp
ENST00000684723.1:c.456G>C ENSP00000508084.1:p.Glu152Asp
ENST00000366683.3:c.479+112G>C ENSP00000355644.3:n.479+112G>C
ENST00000366684.7:c.591G>C MANE Select ENSP00000355645.3:p.Glu197Asp
NM_001100.3:c.591G>C , LRG_429t1:c.591G>C NP_001091.1:p.Glu197Asp
NM_001100.4:c.591G>C MANE Select NP_001091.1:p.Glu197Asp
Search 100 bp 5'
Search 100 bp 3'