Canonical Allele Identifier: CA2450376213

Gene: PRPS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.817G=	ENSP00000361495.2:p.Gly273=
ENST00000372428.9:c.299G=
ENST00000372435.10:c.916G= MANE Select	ENSP00000361512.4:p.Gly306=
ENST00000643795.2:c.802-587G=	ENSP00000496286.1:n.802-587G=
ENST00000644642.1:c.*385G=	ENSP00000495493.1:n.*385G=
ENST00000674826.1:c.*609G=	ENSP00000502278.1:n.*609G=
ENST00000675263.1:c.52G=	ENSP00000502081.1:p.Gly18=
ENST00000675353.1:c.508G=
ENST00000675875.1:c.22-625G=
ENST00000676092.1:c.*44G=	ENSP00000502780.1:n.*44G=
ENST00000676322.1:c.52G=	ENSP00000501977.1:p.Gly18=
ENST00000676365.1:c.484G=
ENST00000372418.2:c.616G=	ENSP00000361495.1:p.Gly206=
ENST00000372428.8:c.304G=	ENSP00000361505.5:p.Gly102=
ENST00000372435.8:c.916G=	ENSP00000361512.4:p.Gly306=
NM_001204402.1:c.304G=	NP_001191331.1:p.Gly102=
NM_002764.3:c.916G= , LRG_264t1:c.916G=	NP_002755.1:p.Gly306=
NM_002764.4:c.916G= MANE Select	NP_002755.1:p.Gly306=
NM_001204402.2:c.304G=	NP_001191331.1:p.Gly102=