Canonical Allele Identifier: CA2450373273

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639431G= , CM000685.2:g.107639431G=	GRCh38
NC_000023.10:g.106882661G= , CM000685.1:g.106882661G=	GRCh37
NC_000023.9:g.106769317G=	NCBI36
NG_008407.1:g.16008G= , LRG_264:g.16008G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.259G=	ENSP00000361495.2:p.Ala87=
ENST00000372435.10:c.259G= MANE Select	ENSP00000361512.4:p.Ala87=
ENST00000643795.2:c.259G=	ENSP00000496286.1:p.Ala87=
ENST00000644642.1:c.123-5746G=	ENSP00000495493.1:n.123-5746G=
ENST00000645638.1:c.*228G=	ENSP00000496554.1:n.*228G=
ENST00000645903.1:n.353G=
ENST00000674525.1:n.344G=
ENST00000674826.1:c.123-1471G=	ENSP00000502278.1:n.123-1471G=
ENST00000674843.1:c.361G=	ENSP00000502260.1:n.361G=
ENST00000675046.1:c.137G=
ENST00000675304.1:n.192G=
ENST00000675720.1:c.137G=
ENST00000676092.1:c.259G=	ENSP00000502780.1:p.Ala87=
ENST00000372418.2:c.58G=	ENSP00000361495.1:p.Ala20=
ENST00000372419.3:c.259G=	ENSP00000361496.3:p.Ala87=
ENST00000372428.8:c.-82-5746G=	ENSP00000361505.5:n.-82-5746G=
ENST00000372435.8:c.259G=	ENSP00000361512.4:p.Ala87=
NM_001204402.1:c.-82-5746G=	NP_001191331.1:n.-82-5746G=
NM_002764.3:c.259G= , LRG_264t1:c.259G=	NP_002755.1:p.Ala87=
NM_002764.4:c.259G= MANE Select	NP_002755.1:p.Ala87=
NM_001204402.2:c.-82-5746G=	NP_001191331.1:n.-82-5746G=