Canonical Allele Identifier: CA413814833

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107647727C>T , CM000685.2:g.107647727C>T	GRCh38
NC_000023.10:g.106890957C>T , CM000685.1:g.106890957C>T	GRCh37
NC_000023.9:g.106777613C>T	NCBI36
NG_008407.1:g.24304C>T , LRG_264:g.24304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.826C>T MANE Select	NP_002755.1:p.Pro276Ser
ENST00000372435.10:c.826C>T MANE Select	ENSP00000361512.4:p.Pro276Ser
NM_001204402.1:c.214C>T	NP_001191331.1:p.Pro72Ser
NM_001204402.2:c.214C>T	NP_001191331.1:p.Pro72Ser
NM_002764.3:c.826C>T , LRG_264t1:c.826C>T	NP_002755.1:p.Pro276Ser
ENST00000372418.2:c.526C>T	ENSP00000361495.1:p.Pro176Ser
ENST00000372418.4:c.727C>T	ENSP00000361495.2:p.Pro243Ser
ENST00000372428.8:c.214C>T	ENSP00000361505.5:p.Pro72Ser
ENST00000372428.9:c.122C>T
ENST00000372435.8:c.826C>T	ENSP00000361512.4:p.Pro276Ser
ENST00000643795.2:c.801+25C>T	ENSP00000496286.1:n.801+25C>T
ENST00000644642.1:c.*295C>T	ENSP00000495493.1:n.*295C>T
ENST00000674826.1:c.*519C>T	ENSP00000502278.1:n.*519C>T
ENST00000675046.1:c.480C>T
ENST00000675082.1:c.247C>T	ENSP00000502347.1:p.Pro83Ser
ENST00000675124.1:c.489C>T	ENSP00000502439.1:n.489C>T
ENST00000675353.1:c.418C>T
ENST00000675630.1:c.485C>T	ENSP00000502050.1:n.485C>T
ENST00000675875.1:c.21+2530C>T
ENST00000676092.1:c.359-2213C>T	ENSP00000502780.1:n.359-2213C>T
ENST00000676365.1:c.394C>T