Canonical Allele Identifier: CA2450376204

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107649944T= , CM000685.2:g.107649944T=	GRCh38
NC_000023.10:g.106893174T= , CM000685.1:g.106893174T=	GRCh37
NC_000023.9:g.106779830T=	NCBI36
NG_008407.1:g.26521T= , LRG_264:g.26521T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.770T=	ENSP00000361495.2:p.Ile257=
ENST00000372428.9:c.252T=
ENST00000372435.10:c.869T= MANE Select	ENSP00000361512.4:p.Ile290=
ENST00000643795.2:c.802-634T=	ENSP00000496286.1:n.802-634T=
ENST00000644642.1:c.*338T=	ENSP00000495493.1:n.*338T=
ENST00000674826.1:c.*562T=	ENSP00000502278.1:n.*562T=
ENST00000675263.1:c.5T=	ENSP00000502081.1:p.Ile2=
ENST00000675353.1:c.461T=
ENST00000675875.1:c.22-672T=
ENST00000676092.1:c.363T=	ENSP00000502780.1:p.Asp121=
ENST00000676322.1:c.5T=	ENSP00000501977.1:p.Ile2=
ENST00000676365.1:c.437T=
ENST00000372418.2:c.569T=	ENSP00000361495.1:p.Ile190=
ENST00000372428.8:c.257T=	ENSP00000361505.5:p.Ile86=
ENST00000372435.8:c.869T=	ENSP00000361512.4:p.Ile290=
NM_001204402.1:c.257T=	NP_001191331.1:p.Ile86=
NM_002764.3:c.869T= , LRG_264t1:c.869T=	NP_002755.1:p.Ile290=
NM_002764.4:c.869T= MANE Select	NP_002755.1:p.Ile290=
NM_001204402.2:c.257T=	NP_001191331.1:p.Ile86=