Canonical Allele Identifier: CA254941

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 9932
• ClinVar RCV Id: RCV000010610
• dbSNP Id: rs137852544
• MyVariant Identifiers: chrX:g.106888445C>T (hg19) ; chrX:g.107645215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645215C>T , CM000685.2:g.107645215C>T	GRCh38
NC_000023.10:g.106888445C>T , CM000685.1:g.106888445C>T	GRCh37
NC_000023.9:g.106775101C>T	NCBI36
NG_008407.1:g.21792C>T , LRG_264:g.21792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.470C>T	ENSP00000361495.2:p.Ala157Val
ENST00000372435.10:c.569C>T MANE Select	ENSP00000361512.4:p.Ala190Val
ENST00000643795.2:c.569C>T	ENSP00000496286.1:p.Ala190Val
ENST00000644642.1:c.*38C>T	ENSP00000495493.1:n.*38C>T
ENST00000674525.1:n.529C>T
ENST00000674826.1:c.*262C>T	ENSP00000502278.1:n.*262C>T
ENST00000675046.1:c.223C>T
ENST00000675082.1:c.126-2391C>T	ENSP00000502347.1:n.126-2391C>T
ENST00000675124.1:c.232C>T	ENSP00000502439.1:n.232C>T
ENST00000675353.1:c.39C>T
ENST00000675630.1:c.228C>T	ENSP00000502050.1:n.228C>T
ENST00000675720.1:c.445C>T
ENST00000675875.1:c.21+18C>T
ENST00000675921.1:c.143C>T	ENSP00000502707.1:p.Ala48Val
ENST00000676092.1:c.358+4262C>T	ENSP00000502780.1:n.358+4262C>T
ENST00000676365.1:c.39C>T
ENST00000372418.2:c.269C>T	ENSP00000361495.1:p.Ala90Val
ENST00000372428.8:c.-44C>T	ENSP00000361505.5:n.-44C>T
ENST00000372435.8:c.569C>T	ENSP00000361512.4:p.Ala190Val
NM_001204402.1:c.-44C>T	NP_001191331.1:n.-44C>T
NM_002764.3:c.569C>T , LRG_264t1:c.569C>T	NP_002755.1:p.Ala190Val
NM_002764.4:c.569C>T MANE Select	NP_002755.1:p.Ala190Val
NM_001204402.2:c.-44C>T	NP_001191331.1:n.-44C>T