Canonical Allele Identifier: CA2450374106

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107642415T= , CM000685.2:g.107642415T=	GRCh38
NC_000023.10:g.106885645T= , CM000685.1:g.106885645T=	GRCh37
NC_000023.9:g.106772301T=	NCBI36
NG_008407.1:g.18992T= , LRG_264:g.18992T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.356T=	ENSP00000361495.2:p.Leu119=
ENST00000372435.10:c.455T= MANE Select	ENSP00000361512.4:p.Leu152=
ENST00000643795.2:c.455T=	ENSP00000496286.1:p.Leu152=
ENST00000644642.1:c.123-2762T=	ENSP00000495493.1:n.123-2762T=
ENST00000645903.1:n.549T=
ENST00000674525.1:n.490+1415T=
ENST00000674826.1:c.*148T=	ENSP00000502278.1:n.*148T=
ENST00000675046.1:c.185-2762T=
ENST00000675082.1:c.50T=	ENSP00000502347.1:p.Leu17=
ENST00000675124.1:c.50T=	ENSP00000502439.1:p.Leu17=
ENST00000675630.1:c.50T=	ENSP00000502050.1:p.Leu17=
ENST00000675720.1:c.331T=
ENST00000675921.1:c.50T=	ENSP00000502707.1:p.Leu17=
ENST00000676092.1:c.358+1462T=	ENSP00000502780.1:n.358+1462T=
ENST00000372418.2:c.155T=	ENSP00000361495.1:p.Leu52=
ENST00000372428.8:c.-82-2762T=	ENSP00000361505.5:n.-82-2762T=
ENST00000372435.8:c.455T=	ENSP00000361512.4:p.Leu152=
NM_001204402.1:c.-82-2762T=	NP_001191331.1:n.-82-2762T=
NM_002764.3:c.455T= , LRG_264t1:c.455T=	NP_002755.1:p.Leu152=
NM_002764.4:c.455T= MANE Select	NP_002755.1:p.Leu152=
NM_001204402.2:c.-82-2762T=	NP_001191331.1:n.-82-2762T=