Canonical Allele Identifier: CA10485638

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 367702
• ClinVar RCV Id: RCV000271803 ; RCV000296329 ; RCV000386019 ; RCV000870451 ; RCV004022121
• dbSNP Id: rs201285459
• ExAC: X:106885634 G / A
• gnomAD v2: X-106885634-G-A
• gnomAD v3: X-107642404-G-A
• gnomAD v4: X-107642404-G-A
• MyVariant Identifiers: chrX:g.106885634G>A (hg19) ; chrX:g.107642404G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107642404G>A , CM000685.2:g.107642404G>A	GRCh38
NC_000023.10:g.106885634G>A , CM000685.1:g.106885634G>A	GRCh37
NC_000023.9:g.106772290G>A	NCBI36
NG_008407.1:g.18981G>A , LRG_264:g.18981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.345G>A	ENSP00000361495.2:p.Glu115=
ENST00000372435.10:c.444G>A MANE Select	ENSP00000361512.4:p.Glu148=
ENST00000643795.2:c.444G>A	ENSP00000496286.1:p.Glu148=
ENST00000644642.1:c.123-2773G>A	ENSP00000495493.1:n.123-2773G>A
ENST00000645903.1:n.538G>A
ENST00000674525.1:n.490+1404G>A
ENST00000674826.1:c.*137G>A	ENSP00000502278.1:n.*137G>A
ENST00000675046.1:c.185-2773G>A
ENST00000675082.1:c.39G>A	ENSP00000502347.1:p.Glu13=
ENST00000675124.1:c.39G>A	ENSP00000502439.1:p.Glu13=
ENST00000675630.1:c.39G>A	ENSP00000502050.1:p.Glu13=
ENST00000675720.1:c.320G>A
ENST00000675921.1:c.39G>A	ENSP00000502707.1:p.Glu13=
ENST00000676092.1:c.358+1451G>A	ENSP00000502780.1:n.358+1451G>A
ENST00000372418.2:c.144G>A	ENSP00000361495.1:p.Glu48=
ENST00000372428.8:c.-82-2773G>A	ENSP00000361505.5:n.-82-2773G>A
ENST00000372435.8:c.444G>A	ENSP00000361512.4:p.Glu148=
NM_001204402.1:c.-82-2773G>A	NP_001191331.1:n.-82-2773G>A
NM_002764.3:c.444G>A , LRG_264t1:c.444G>A	NP_002755.1:p.Glu148=
NM_002764.4:c.444G>A MANE Select	NP_002755.1:p.Glu148=
NM_001204402.2:c.-82-2773G>A	NP_001191331.1:n.-82-2773G>A