Canonical Allele Identifier: CA259726
Gene: PRPS1 HGNC NCBI
ClinVar RCV:
RCV000022882
ClinVar Variation:
29989
dbSNP:
398122855
MyVariant.info:
GRCh38 chrX:g.107642384G>C
GRCh37 chrX:g.106885614G>C
Revel Score:
ENST00000372435 (MANE Select) 0.842
ENST00000372428 0.842
ENST00000543248 0.842
ENST00000372418 0.842
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107642384G>C , CM000685.2:g.107642384G>C GRCh38
NC_000023.10:g.106885614G>C , CM000685.1:g.106885614G>C GRCh37
NC_000023.9:g.106772270G>C NCBI36
NG_008407.1:g.18961G>C , LRG_264:g.18961G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372418.4:c.325G>C ENSP00000361495.2:p.Val109Leu
ENST00000372435.10:c.424G>C MANE Select ENSP00000361512.4:p.Val142Leu
ENST00000643795.2:c.424G>C ENSP00000496286.1:p.Val142Leu
ENST00000644642.1:c.123-2793G>C ENSP00000495493.1:n.123-2793G>C
ENST00000645903.1:n.518G>C
ENST00000674525.1:n.490+1384G>C
ENST00000674826.1:c.*117G>C ENSP00000502278.1:n.*117G>C
ENST00000675046.1:c.185-2793G>C
ENST00000675082.1:c.19G>C ENSP00000502347.1:p.Val7Leu
ENST00000675124.1:c.19G>C ENSP00000502439.1:p.Val7Leu
ENST00000675630.1:c.19G>C ENSP00000502050.1:p.Val7Leu
ENST00000675720.1:c.300G>C
ENST00000675921.1:c.19G>C ENSP00000502707.1:p.Val7Leu
ENST00000676092.1:c.358+1431G>C ENSP00000502780.1:n.358+1431G>C
ENST00000372418.2:c.124G>C ENSP00000361495.1:p.Val42Leu
ENST00000372428.8:c.-82-2793G>C ENSP00000361505.5:n.-82-2793G>C
ENST00000372435.8:c.424G>C ENSP00000361512.4:p.Val142Leu
NM_001204402.1:c.-82-2793G>C NP_001191331.1:n.-82-2793G>C
NM_002764.3:c.424G>C , LRG_264t1:c.424G>C NP_002755.1:p.Val142Leu
NM_002764.4:c.424G>C MANE Select NP_002755.1:p.Val142Leu
NM_001204402.2:c.-82-2793G>C NP_001191331.1:n.-82-2793G>C
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