Canonical Allele Identifier: CA2450374887

Gene: PRPS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.547G= MANE Select	NP_002755.1:p.Asp183=
ENST00000372435.10:c.547G= MANE Select	ENSP00000361512.4:p.Asp183=
NM_001204402.1:c.-66G=	NP_001191331.1:n.-66G=
NM_001204402.2:c.-66G=	NP_001191331.1:n.-66G=
NM_002764.3:c.547G= , LRG_264t1:c.547G=	NP_002755.1:p.Asp183=
ENST00000372418.2:c.247G=	ENSP00000361495.1:p.Asp83=
ENST00000372418.4:c.448G=	ENSP00000361495.2:p.Asp150=
ENST00000372428.8:c.-66G=	ENSP00000361505.5:n.-66G=
ENST00000372435.8:c.547G=	ENSP00000361512.4:p.Asp183=
ENST00000643795.2:c.547G=	ENSP00000496286.1:p.Asp183=
ENST00000644642.1:c.*16G=	ENSP00000495493.1:n.*16G=
ENST00000674525.1:n.507G=
ENST00000674826.1:c.*240G=	ENSP00000502278.1:n.*240G=
ENST00000675046.1:c.201G=
ENST00000675082.1:c.126-2413G=	ENSP00000502347.1:n.126-2413G=
ENST00000675124.1:c.210G=	ENSP00000502439.1:n.210G=
ENST00000675353.1:c.17G=
ENST00000675630.1:c.206G=	ENSP00000502050.1:n.206G=
ENST00000675720.1:c.423G=
ENST00000675875.1:c.17G=
ENST00000675921.1:c.126-5G=	ENSP00000502707.1:n.126-5G=
ENST00000676092.1:c.358+4240G=	ENSP00000502780.1:n.358+4240G=
ENST00000676365.1:c.17G=