Canonical Allele Identifier: CA2450375565

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107647731A= , CM000685.2:g.107647731A=	GRCh38
NC_000023.10:g.106890961A= , CM000685.1:g.106890961A=	GRCh37
NC_000023.9:g.106777617A=	NCBI36
NG_008407.1:g.24308A= , LRG_264:g.24308A=

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.830A= MANE Select	NP_002755.1:p.Gln277=
ENST00000372435.10:c.830A= MANE Select	ENSP00000361512.4:p.Gln277=
NM_001204402.1:c.218A=	NP_001191331.1:p.Gln73=
NM_001204402.2:c.218A=	NP_001191331.1:p.Gln73=
NM_002764.3:c.830A= , LRG_264t1:c.830A=	NP_002755.1:p.Gln277=
ENST00000372418.2:c.530A=	ENSP00000361495.1:p.Gln177=
ENST00000372418.4:c.731A=	ENSP00000361495.2:p.Gln244=
ENST00000372428.8:c.218A=	ENSP00000361505.5:p.Gln73=
ENST00000372428.9:c.126A=
ENST00000372435.8:c.830A=	ENSP00000361512.4:p.Gln277=
ENST00000643795.2:c.801+29A=	ENSP00000496286.1:n.801+29A=
ENST00000644642.1:c.*299A=	ENSP00000495493.1:n.*299A=
ENST00000674826.1:c.*523A=	ENSP00000502278.1:n.*523A=
ENST00000675046.1:c.484A=
ENST00000675082.1:c.251A=	ENSP00000502347.1:p.Gln84=
ENST00000675124.1:c.493A=	ENSP00000502439.1:n.493A=
ENST00000675353.1:c.422A=
ENST00000675630.1:c.489A=	ENSP00000502050.1:n.489A=
ENST00000675875.1:c.21+2534A=
ENST00000676092.1:c.359-2209A=	ENSP00000502780.1:n.359-2209A=
ENST00000676365.1:c.398A=