Canonical Allele Identifier: CA413811807

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645232C>T , CM000685.2:g.107645232C>T	GRCh38
NC_000023.10:g.106888462C>T , CM000685.1:g.106888462C>T	GRCh37
NC_000023.9:g.106775118C>T	NCBI36
NG_008407.1:g.21809C>T , LRG_264:g.21809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.487C>T	ENSP00000361495.2:p.Arg163Trp
ENST00000372435.10:c.586C>T MANE Select	ENSP00000361512.4:p.Arg196Trp
ENST00000643795.2:c.586C>T	ENSP00000496286.1:p.Arg196Trp
ENST00000644642.1:c.*55C>T	ENSP00000495493.1:n.*55C>T
ENST00000674525.1:n.546C>T
ENST00000674826.1:c.*279C>T	ENSP00000502278.1:n.*279C>T
ENST00000675046.1:c.240C>T
ENST00000675082.1:c.126-2374C>T	ENSP00000502347.1:n.126-2374C>T
ENST00000675124.1:c.249C>T	ENSP00000502439.1:n.249C>T
ENST00000675353.1:c.56C>T
ENST00000675630.1:c.245C>T	ENSP00000502050.1:n.245C>T
ENST00000675720.1:c.462C>T
ENST00000675875.1:c.21+35C>T
ENST00000675921.1:c.160C>T	ENSP00000502707.1:p.Arg54Trp
ENST00000676092.1:c.358+4279C>T	ENSP00000502780.1:n.358+4279C>T
ENST00000676365.1:c.56C>T
ENST00000372418.2:c.286C>T	ENSP00000361495.1:p.Arg96Trp
ENST00000372428.8:c.-27C>T	ENSP00000361505.5:n.-27C>T
ENST00000372435.8:c.586C>T	ENSP00000361512.4:p.Arg196Trp
NM_001204402.1:c.-27C>T	NP_001191331.1:n.-27C>T
NM_002764.3:c.586C>T , LRG_264t1:c.586C>T	NP_002755.1:p.Arg196Trp
NM_002764.4:c.586C>T MANE Select	NP_002755.1:p.Arg196Trp
NM_001204402.2:c.-27C>T	NP_001191331.1:n.-27C>T