Canonical Allele Identifier: CA254949
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9940
ClinVar RCV Id: RCV000010618
dbSNP Id: rs180177154

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107649991G>A , CM000685.2:g.107649991G>A GRCh38
NC_000023.10:g.106893221G>A , CM000685.1:g.106893221G>A GRCh37
NC_000023.9:g.106779877G>A NCBI36
NG_008407.1:g.26568G>A , LRG_264:g.26568G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.817G>A ENSP00000361495.2:p.Gly273Arg
ENST00000372428.9:c.299G>A
ENST00000372435.10:c.916G>A MANE Select ENSP00000361512.4:p.Gly306Arg
ENST00000643795.2:c.802-587G>A ENSP00000496286.1:n.802-587G>A
ENST00000644642.1:c.*385G>A ENSP00000495493.1:n.*385G>A
ENST00000674826.1:c.*609G>A ENSP00000502278.1:n.*609G>A
ENST00000675263.1:c.52G>A ENSP00000502081.1:p.Gly18Arg
ENST00000675353.1:c.508G>A
ENST00000675875.1:c.22-625G>A
ENST00000676092.1:c.*44G>A ENSP00000502780.1:n.*44G>A
ENST00000676322.1:c.52G>A ENSP00000501977.1:p.Gly18Arg
ENST00000676365.1:c.484G>A
ENST00000372418.2:c.616G>A ENSP00000361495.1:p.Gly206Arg
ENST00000372428.8:c.304G>A ENSP00000361505.5:p.Gly102Arg
ENST00000372435.8:c.916G>A ENSP00000361512.4:p.Gly306Arg
NM_001204402.1:c.304G>A NP_001191331.1:p.Gly102Arg
NM_002764.3:c.916G>A , LRG_264t1:c.916G>A NP_002755.1:p.Gly306Arg
NM_002764.4:c.916G>A MANE Select NP_002755.1:p.Gly306Arg
NM_001204402.2:c.304G>A NP_001191331.1:p.Gly102Arg