Canonical Allele Identifier: CA10584629

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107640914A>G , CM000685.2:g.107640914A>G	GRCh38
NC_000023.10:g.106884144A>G , CM000685.1:g.106884144A>G	GRCh37
NC_000023.9:g.106770800A>G	NCBI36
NG_008407.1:g.17491A>G , LRG_264:g.17491A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.319A>G MANE Select	NP_002755.1:p.Ile107Val
ENST00000372435.10:c.319A>G MANE Select	ENSP00000361512.4:p.Ile107Val
NM_001204402.1:c.-82-4263A>G	NP_001191331.1:n.-82-4263A>G
NM_001204402.2:c.-82-4263A>G	NP_001191331.1:n.-82-4263A>G
NM_002764.3:c.319A>G , LRG_264t1:c.319A>G	NP_002755.1:p.Ile107Val
ENST00000372418.2:c.105+1436A>G	ENSP00000361495.1:n.105+1436A>G
ENST00000372418.4:c.306+1436A>G	ENSP00000361495.2:n.306+1436A>G
ENST00000372419.3:c.319A>G	ENSP00000361496.3:p.Ile107Val
ENST00000372428.8:c.-82-4263A>G	ENSP00000361505.5:n.-82-4263A>G
ENST00000372435.8:c.319A>G	ENSP00000361512.4:p.Ile107Val
ENST00000643795.2:c.319A>G	ENSP00000496286.1:p.Ile107Val
ENST00000644642.1:c.123-4263A>G	ENSP00000495493.1:n.123-4263A>G
ENST00000645903.1:n.413A>G
ENST00000674525.1:n.404A>G
ENST00000674826.1:c.*12A>G	ENSP00000502278.1:n.*12A>G
ENST00000675046.1:c.184+1436A>G
ENST00000675720.1:c.195A>G
ENST00000676092.1:c.319A>G	ENSP00000502780.1:p.Ile107Val