Canonical Allele Identifier: CA517921269

Gene: PRPS1

Linked Data

• MyVariant Identifiers: chrX:g.106888446C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645216C>G , CM000685.2:g.107645216C>G	GRCh38
NC_000023.10:g.106888446C>G , CM000685.1:g.106888446C>G	GRCh37
NC_000023.9:g.106775102C>G	NCBI36
NG_008407.1:g.21793C>G , LRG_264:g.21793C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372418.4:c.471C>G	ENSP00000361495.2:p.Ala157=
ENST00000372435.10:c.570C>G MANE Select	ENSP00000361512.4:p.Ala190=
ENST00000643795.2:c.570C>G	ENSP00000496286.1:p.Ala190=
ENST00000644642.1:c.*39C>G	ENSP00000495493.1:n.*39C>G
ENST00000674525.1:n.530C>G
ENST00000674826.1:c.*263C>G	ENSP00000502278.1:n.*263C>G
ENST00000675046.1:c.224C>G
ENST00000675082.1:c.126-2390C>G	ENSP00000502347.1:n.126-2390C>G
ENST00000675124.1:c.233C>G	ENSP00000502439.1:n.233C>G
ENST00000675353.1:c.40C>G
ENST00000675630.1:c.229C>G	ENSP00000502050.1:n.229C>G
ENST00000675720.1:c.446C>G
ENST00000675875.1:c.21+19C>G
ENST00000675921.1:c.144C>G	ENSP00000502707.1:p.Ala48=
ENST00000676092.1:c.358+4263C>G	ENSP00000502780.1:n.358+4263C>G
ENST00000676365.1:c.40C>G
ENST00000372418.2:c.270C>G	ENSP00000361495.1:p.Ala90=
ENST00000372428.8:c.-43C>G	ENSP00000361505.5:n.-43C>G
ENST00000372435.8:c.570C>G	ENSP00000361512.4:p.Ala190=
NM_001204402.1:c.-43C>G	NP_001191331.1:n.-43C>G
NM_002764.3:c.570C>G , LRG_264t1:c.570C>G	NP_002755.1:p.Ala190=
NM_002764.4:c.570C>G MANE Select	NP_002755.1:p.Ala190=
NM_001204402.2:c.-43C>G	NP_001191331.1:n.-43C>G