Canonical Allele Identifier: CA517920823

Gene: PRPS1

Linked Data

• MyVariant Identifiers: chrX:g.106882567T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639337T>C , CM000685.2:g.107639337T>C	GRCh38
NC_000023.10:g.106882567T>C , CM000685.1:g.106882567T>C	GRCh37
NC_000023.9:g.106769223T>C	NCBI36
NG_008407.1:g.15914T>C , LRG_264:g.15914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.165T>C	ENSP00000361495.2:p.Ile55=
ENST00000372435.10:c.165T>C MANE Select	ENSP00000361512.4:p.Ile55=
ENST00000643795.2:c.165T>C	ENSP00000496286.1:p.Ile55=
ENST00000644642.1:c.123-5840T>C	ENSP00000495493.1:n.123-5840T>C
ENST00000645638.1:c.*134T>C	ENSP00000496554.1:n.*134T>C
ENST00000645903.1:n.259T>C
ENST00000674525.1:n.250T>C
ENST00000674826.1:c.123-1565T>C	ENSP00000502278.1:n.123-1565T>C
ENST00000674843.1:c.267T>C	ENSP00000502260.1:n.267T>C
ENST00000675046.1:c.43T>C
ENST00000675304.1:n.98T>C
ENST00000675720.1:c.43T>C
ENST00000676092.1:c.165T>C	ENSP00000502780.1:p.Ile55=
ENST00000372419.3:c.165T>C	ENSP00000361496.3:p.Ile55=
ENST00000372428.8:c.-82-5840T>C	ENSP00000361505.5:n.-82-5840T>C
ENST00000372435.8:c.165T>C	ENSP00000361512.4:p.Ile55=
NM_001204402.1:c.-82-5840T>C	NP_001191331.1:n.-82-5840T>C
NM_002764.3:c.165T>C , LRG_264t1:c.165T>C	NP_002755.1:p.Ile55=
NM_002764.4:c.165T>C MANE Select	NP_002755.1:p.Ile55=
NM_001204402.2:c.-82-5840T>C	NP_001191331.1:n.-82-5840T>C