Canonical Allele Identifier: CA333058982

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645162C>A , CM000685.2:g.107645162C>A	GRCh38
NC_000023.10:g.106888392C>A , CM000685.1:g.106888392C>A	GRCh37
NC_000023.9:g.106775048C>A	NCBI36
NG_008407.1:g.21739C>A , LRG_264:g.21739C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.531-15C>A MANE Select	NP_002755.1:n.531-15C>A
ENST00000372435.10:c.531-15C>A MANE Select	ENSP00000361512.4:n.531-15C>A
NM_001204402.1:c.-82-15C>A	NP_001191331.1:n.-82-15C>A
NM_001204402.2:c.-82-15C>A	NP_001191331.1:n.-82-15C>A
NM_002764.3:c.531-15C>A , LRG_264t1:c.531-15C>A	NP_002755.1:n.531-15C>A
ENST00000372418.2:c.231-15C>A	ENSP00000361495.1:n.231-15C>A
ENST00000372418.4:c.432-15C>A	ENSP00000361495.2:n.432-15C>A
ENST00000372428.8:c.-82-15C>A	ENSP00000361505.5:n.-82-15C>A
ENST00000372435.8:c.531-15C>A	ENSP00000361512.4:n.531-15C>A
ENST00000643795.2:c.531-15C>A	ENSP00000496286.1:n.531-15C>A
ENST00000644642.1:c.123-15C>A	ENSP00000495493.1:n.123-15C>A
ENST00000674525.1:n.491-15C>A
ENST00000674826.1:c.*224-15C>A	ENSP00000502278.1:n.*224-15C>A
ENST00000675046.1:c.185-15C>A
ENST00000675082.1:c.126-2444C>A	ENSP00000502347.1:n.126-2444C>A
ENST00000675124.1:c.194-15C>A	ENSP00000502439.1:n.194-15C>A
ENST00000675630.1:c.190-15C>A	ENSP00000502050.1:n.190-15C>A
ENST00000675720.1:c.407-15C>A
ENST00000675921.1:c.126-36C>A	ENSP00000502707.1:n.126-36C>A
ENST00000676092.1:c.358+4209C>A	ENSP00000502780.1:n.358+4209C>A