Canonical Allele Identifier: CA2450373255

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639301A= , CM000685.2:g.107639301A=	GRCh38
NC_000023.10:g.106882531A= , CM000685.1:g.106882531A=	GRCh37
NC_000023.9:g.106769187A=	NCBI36
NG_008407.1:g.15878A= , LRG_264:g.15878A=

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.129A= MANE Select	NP_002755.1:p.Glu43=
ENST00000372435.10:c.129A= MANE Select	ENSP00000361512.4:p.Glu43=
NM_001204402.1:c.-82-5876A=	NP_001191331.1:n.-82-5876A=
NM_001204402.2:c.-82-5876A=	NP_001191331.1:n.-82-5876A=
NM_002764.3:c.129A= , LRG_264t1:c.129A=	NP_002755.1:p.Glu43=
ENST00000372418.4:c.129A=	ENSP00000361495.2:p.Glu43=
ENST00000372419.3:c.129A=	ENSP00000361496.3:p.Glu43=
ENST00000372428.8:c.-82-5876A=	ENSP00000361505.5:n.-82-5876A=
ENST00000372435.8:c.129A=	ENSP00000361512.4:p.Glu43=
ENST00000643795.2:c.129A=	ENSP00000496286.1:p.Glu43=
ENST00000644642.1:c.123-5876A=	ENSP00000495493.1:n.123-5876A=
ENST00000645638.1:c.*98A=	ENSP00000496554.1:n.*98A=
ENST00000645903.1:n.223A=
ENST00000674525.1:n.214A=
ENST00000674826.1:c.123-1601A=	ENSP00000502278.1:n.123-1601A=
ENST00000674843.1:c.231A=	ENSP00000502260.1:n.231A=
ENST00000675046.1:c.7A=
ENST00000675304.1:n.62A=
ENST00000675720.1:c.7A=
ENST00000676092.1:c.129A=	ENSP00000502780.1:p.Glu43=