Canonical Allele Identifier: CA413814641

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107647680G>A , CM000685.2:g.107647680G>A	GRCh38
NC_000023.10:g.106890910G>A , CM000685.1:g.106890910G>A	GRCh37
NC_000023.9:g.106777566G>A	NCBI36
NG_008407.1:g.24257G>A , LRG_264:g.24257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.680G>A	ENSP00000361495.2:p.Arg227His
ENST00000372428.9:c.75G>A
ENST00000372435.10:c.779G>A MANE Select	ENSP00000361512.4:p.Arg260His
ENST00000643795.2:c.779G>A	ENSP00000496286.1:p.Arg260His
ENST00000644642.1:c.*248G>A	ENSP00000495493.1:n.*248G>A
ENST00000674826.1:c.*472G>A	ENSP00000502278.1:n.*472G>A
ENST00000675046.1:c.433G>A
ENST00000675082.1:c.200G>A	ENSP00000502347.1:p.Arg67His
ENST00000675124.1:c.442G>A	ENSP00000502439.1:n.442G>A
ENST00000675353.1:c.371G>A
ENST00000675630.1:c.438G>A	ENSP00000502050.1:n.438G>A
ENST00000675875.1:c.21+2483G>A
ENST00000676092.1:c.359-2260G>A	ENSP00000502780.1:n.359-2260G>A
ENST00000676365.1:c.347G>A
ENST00000372418.2:c.479G>A	ENSP00000361495.1:p.Arg160His
ENST00000372428.8:c.167G>A	ENSP00000361505.5:p.Arg56His
ENST00000372435.8:c.779G>A	ENSP00000361512.4:p.Arg260His
NM_001204402.1:c.167G>A	NP_001191331.1:p.Arg56His
NM_002764.3:c.779G>A , LRG_264t1:c.779G>A	NP_002755.1:p.Arg260His
NM_002764.4:c.779G>A MANE Select	NP_002755.1:p.Arg260His
NM_001204402.2:c.167G>A	NP_001191331.1:p.Arg56His