Canonical Allele Identifier: CA413816444

Gene: PRPS1

Linked Data

Genomic Alleles

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

Transcript Alleles

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