Canonical Allele Identifier: CA340962
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9937
ClinVar RCV Id: RCV000010615
dbSNP Id: rs80338675
MyVariant Identifiers: chrX:g.106884223A>C (hg19) chrX:g.107640993A>C (hg38)
PubMed: PMID:17701896 PMID:20301738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107640993A>C , CM000685.2:g.107640993A>C GRCh38
NC_000023.10:g.106884223A>C , CM000685.1:g.106884223A>C GRCh37
NC_000023.9:g.106770879A>C NCBI36
NG_008407.1:g.17570A>C , LRG_264:g.17570A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.307-1373A>C ENSP00000361495.2:n.307-1373A>C
ENST00000372435.10:c.398A>C MANE Select ENSP00000361512.4:p.Gln133Pro
ENST00000643795.2:c.398A>C ENSP00000496286.1:p.Gln133Pro
ENST00000644642.1:c.123-4184A>C ENSP00000495493.1:n.123-4184A>C
ENST00000645903.1:n.492A>C
ENST00000674525.1:n.483A>C
ENST00000674826.1:c.*91A>C ENSP00000502278.1:n.*91A>C
ENST00000675046.1:c.184+1515A>C
ENST00000675720.1:c.274A>C
ENST00000676092.1:c.358+40A>C ENSP00000502780.1:n.358+40A>C
ENST00000372418.2:c.106-1373A>C ENSP00000361495.1:n.106-1373A>C
ENST00000372419.3:c.398A>C ENSP00000361496.3:p.Gln133Pro
ENST00000372428.8:c.-82-4184A>C ENSP00000361505.5:n.-82-4184A>C
ENST00000372435.8:c.398A>C ENSP00000361512.4:p.Gln133Pro
NM_001204402.1:c.-82-4184A>C NP_001191331.1:n.-82-4184A>C
NM_002764.3:c.398A>C , LRG_264t1:c.398A>C NP_002755.1:p.Gln133Pro
NM_002764.4:c.398A>C MANE Select NP_002755.1:p.Gln133Pro
NM_001204402.2:c.-82-4184A>C NP_001191331.1:n.-82-4184A>C
Search 100 bp 5'
Search 100 bp 3'