Canonical Allele Identifier: CA254943

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 9933
• ClinVar RCV Id: RCV000010611
• dbSNP Id: rs137852545
• MyVariant Identifiers: chrX:g.106888455C>G (hg19) ; chrX:g.107645225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645225C>G , CM000685.2:g.107645225C>G	GRCh38
NC_000023.10:g.106888455C>G , CM000685.1:g.106888455C>G	GRCh37
NC_000023.9:g.106775111C>G	NCBI36
NG_008407.1:g.21802C>G , LRG_264:g.21802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.480C>G	ENSP00000361495.2:p.His160Gln
ENST00000372435.10:c.579C>G MANE Select	ENSP00000361512.4:p.His193Gln
ENST00000643795.2:c.579C>G	ENSP00000496286.1:p.His193Gln
ENST00000644642.1:c.*48C>G	ENSP00000495493.1:n.*48C>G
ENST00000674525.1:n.539C>G
ENST00000674826.1:c.*272C>G	ENSP00000502278.1:n.*272C>G
ENST00000675046.1:c.233C>G
ENST00000675082.1:c.126-2381C>G	ENSP00000502347.1:n.126-2381C>G
ENST00000675124.1:c.242C>G	ENSP00000502439.1:n.242C>G
ENST00000675353.1:c.49C>G
ENST00000675630.1:c.238C>G	ENSP00000502050.1:n.238C>G
ENST00000675720.1:c.455C>G
ENST00000675875.1:c.21+28C>G
ENST00000675921.1:c.153C>G	ENSP00000502707.1:p.His51Gln
ENST00000676092.1:c.358+4272C>G	ENSP00000502780.1:n.358+4272C>G
ENST00000676365.1:c.49C>G
ENST00000372418.2:c.279C>G	ENSP00000361495.1:p.His93Gln
ENST00000372428.8:c.-34C>G	ENSP00000361505.5:n.-34C>G
ENST00000372435.8:c.579C>G	ENSP00000361512.4:p.His193Gln
NM_001204402.1:c.-34C>G	NP_001191331.1:n.-34C>G
NM_002764.3:c.579C>G , LRG_264t1:c.579C>G	NP_002755.1:p.His193Gln
NM_002764.4:c.579C>G MANE Select	NP_002755.1:p.His193Gln
NM_001204402.2:c.-34C>G	NP_001191331.1:n.-34C>G