Canonical Allele Identifier: CA2450373263

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639365G= , CM000685.2:g.107639365G=	GRCh38
NC_000023.10:g.106882595G= , CM000685.1:g.106882595G=	GRCh37
NC_000023.9:g.106769251G=	NCBI36
NG_008407.1:g.15942G= , LRG_264:g.15942G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.193G=	ENSP00000361495.2:p.Asp65=
ENST00000372435.10:c.193G= MANE Select	ENSP00000361512.4:p.Asp65=
ENST00000643795.2:c.193G=	ENSP00000496286.1:p.Asp65=
ENST00000644642.1:c.123-5812G=	ENSP00000495493.1:n.123-5812G=
ENST00000645638.1:c.*162G=	ENSP00000496554.1:n.*162G=
ENST00000645903.1:n.287G=
ENST00000674525.1:n.278G=
ENST00000674826.1:c.123-1537G=	ENSP00000502278.1:n.123-1537G=
ENST00000674843.1:c.295G=	ENSP00000502260.1:n.295G=
ENST00000675046.1:c.71G=
ENST00000675304.1:n.126G=
ENST00000675720.1:c.71G=
ENST00000676092.1:c.193G=	ENSP00000502780.1:p.Asp65=
ENST00000372418.2:c.-9G=	ENSP00000361495.1:n.-9G=
ENST00000372419.3:c.193G=	ENSP00000361496.3:p.Asp65=
ENST00000372428.8:c.-82-5812G=	ENSP00000361505.5:n.-82-5812G=
ENST00000372435.8:c.193G=	ENSP00000361512.4:p.Asp65=
NM_001204402.1:c.-82-5812G=	NP_001191331.1:n.-82-5812G=
NM_002764.3:c.193G= , LRG_264t1:c.193G=	NP_002755.1:p.Asp65=
NM_002764.4:c.193G= MANE Select	NP_002755.1:p.Asp65=
NM_001204402.2:c.-82-5812G=	NP_001191331.1:n.-82-5812G=