Canonical Allele Identifier: CA2450374892

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645225C= , CM000685.2:g.107645225C=	GRCh38
NC_000023.10:g.106888455C= , CM000685.1:g.106888455C=	GRCh37
NC_000023.9:g.106775111C=	NCBI36
NG_008407.1:g.21802C= , LRG_264:g.21802C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.480C=	ENSP00000361495.2:p.His160=
ENST00000372435.10:c.579C= MANE Select	ENSP00000361512.4:p.His193=
ENST00000643795.2:c.579C=	ENSP00000496286.1:p.His193=
ENST00000644642.1:c.*48C=	ENSP00000495493.1:n.*48C=
ENST00000674525.1:n.539C=
ENST00000674826.1:c.*272C=	ENSP00000502278.1:n.*272C=
ENST00000675046.1:c.233C=
ENST00000675082.1:c.126-2381C=	ENSP00000502347.1:n.126-2381C=
ENST00000675124.1:c.242C=	ENSP00000502439.1:n.242C=
ENST00000675353.1:c.49C=
ENST00000675630.1:c.238C=	ENSP00000502050.1:n.238C=
ENST00000675720.1:c.455C=
ENST00000675875.1:c.21+28C=
ENST00000675921.1:c.153C=	ENSP00000502707.1:p.His51=
ENST00000676092.1:c.358+4272C=	ENSP00000502780.1:n.358+4272C=
ENST00000676365.1:c.49C=
ENST00000372418.2:c.279C=	ENSP00000361495.1:p.His93=
ENST00000372428.8:c.-34C=	ENSP00000361505.5:n.-34C=
ENST00000372435.8:c.579C=	ENSP00000361512.4:p.His193=
NM_001204402.1:c.-34C=	NP_001191331.1:n.-34C=
NM_002764.3:c.579C= , LRG_264t1:c.579C=	NP_002755.1:p.His193=
NM_002764.4:c.579C= MANE Select	NP_002755.1:p.His193=
NM_001204402.2:c.-34C=	NP_001191331.1:n.-34C=