Canonical Allele Identifier: CA254935
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9929
dbSNP Id: rs137852541

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107645193G>C , CM000685.2:g.107645193G>C GRCh38
NC_000023.10:g.106888423G>C , CM000685.1:g.106888423G>C GRCh37
NC_000023.9:g.106775079G>C NCBI36
NG_008407.1:g.21770G>C , LRG_264:g.21770G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.448G>C ENSP00000361495.2:p.Asp150His
ENST00000372435.10:c.547G>C MANE Select ENSP00000361512.4:p.Asp183His
ENST00000643795.2:c.547G>C ENSP00000496286.1:p.Asp183His
ENST00000644642.1:c.*16G>C ENSP00000495493.1:n.*16G>C
ENST00000674525.1:n.507G>C
ENST00000674826.1:c.*240G>C ENSP00000502278.1:n.*240G>C
ENST00000675046.1:c.201G>C
ENST00000675082.1:c.126-2413G>C ENSP00000502347.1:n.126-2413G>C
ENST00000675124.1:c.210G>C ENSP00000502439.1:n.210G>C
ENST00000675353.1:c.17G>C
ENST00000675630.1:c.206G>C ENSP00000502050.1:n.206G>C
ENST00000675720.1:c.423G>C
ENST00000675875.1:c.17G>C
ENST00000675921.1:c.126-5G>C ENSP00000502707.1:n.126-5G>C
ENST00000676092.1:c.358+4240G>C ENSP00000502780.1:n.358+4240G>C
ENST00000676365.1:c.17G>C
ENST00000372418.2:c.247G>C ENSP00000361495.1:p.Asp83His
ENST00000372428.8:c.-66G>C ENSP00000361505.5:n.-66G>C
ENST00000372435.8:c.547G>C ENSP00000361512.4:p.Asp183His
NM_001204402.1:c.-66G>C NP_001191331.1:n.-66G>C
NM_002764.3:c.547G>C , LRG_264t1:c.547G>C NP_002755.1:p.Asp183His
NM_002764.4:c.547G>C MANE Select NP_002755.1:p.Asp183His
NM_001204402.2:c.-66G>C NP_001191331.1:n.-66G>C