Canonical Allele Identifier: CA10653719

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107650198G>A , CM000685.2:g.107650198G>A	GRCh38
NC_000023.10:g.106893428G>A , CM000685.1:g.106893428G>A	GRCh37
NC_000023.9:g.106780084G>A	NCBI36
NG_008407.1:g.26775G>A , LRG_264:g.26775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.*166G>A	ENSP00000361495.2:n.*166G>A
ENST00000372428.9:c.506G>A
ENST00000372435.10:c.*166G>A MANE Select	ENSP00000361512.4:n.*166G>A
ENST00000643795.2:c.802-380G>A	ENSP00000496286.1:n.802-380G>A
ENST00000644642.1:c.*592G>A	ENSP00000495493.1:n.*592G>A
ENST00000675263.1:c.218+41G>A	ENSP00000502081.1:n.218+41G>A
ENST00000675875.1:c.22-418G>A
ENST00000676322.1:c.259G>A	ENSP00000501977.1:n.259G>A
ENST00000372418.2:c.*166G>A	ENSP00000361495.1:n.*166G>A
ENST00000372428.8:c.*166G>A	ENSP00000361505.5:n.*166G>A
ENST00000372435.8:c.*166G>A	ENSP00000361512.4:n.*166G>A
NM_001204402.1:c.*166G>A	NP_001191331.1:n.*166G>A
NM_002764.3:c.*166G>A , LRG_264t1:c.*166G>A	NP_002755.1:n.*166G>A
NM_002764.4:c.*166G>A MANE Select	NP_002755.1:n.*166G>A
NM_001204402.2:c.*166G>A	NP_001191331.1:n.*166G>A