Canonical Allele Identifier: CA2450373718

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107640993A= , CM000685.2:g.107640993A=	GRCh38
NC_000023.10:g.106884223A= , CM000685.1:g.106884223A=	GRCh37
NC_000023.9:g.106770879A=	NCBI36
NG_008407.1:g.17570A= , LRG_264:g.17570A=

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.398A= MANE Select	NP_002755.1:p.Gln133=
ENST00000372435.10:c.398A= MANE Select	ENSP00000361512.4:p.Gln133=
NM_001204402.1:c.-82-4184A=	NP_001191331.1:n.-82-4184A=
NM_001204402.2:c.-82-4184A=	NP_001191331.1:n.-82-4184A=
NM_002764.3:c.398A= , LRG_264t1:c.398A=	NP_002755.1:p.Gln133=
ENST00000372418.2:c.106-1373A=	ENSP00000361495.1:n.106-1373A=
ENST00000372418.4:c.307-1373A=	ENSP00000361495.2:n.307-1373A=
ENST00000372419.3:c.398A=	ENSP00000361496.3:p.Gln133=
ENST00000372428.8:c.-82-4184A=	ENSP00000361505.5:n.-82-4184A=
ENST00000372435.8:c.398A=	ENSP00000361512.4:p.Gln133=
ENST00000643795.2:c.398A=	ENSP00000496286.1:p.Gln133=
ENST00000644642.1:c.123-4184A=	ENSP00000495493.1:n.123-4184A=
ENST00000645903.1:n.492A=
ENST00000674525.1:n.483A=
ENST00000674826.1:c.*91A=	ENSP00000502278.1:n.*91A=
ENST00000675046.1:c.184+1515A=
ENST00000675720.1:c.274A=
ENST00000676092.1:c.358+40A=	ENSP00000502780.1:n.358+40A=