Canonical Allele Identifier: CA517921270

Gene: PRPS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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