Canonical Allele Identifier: CA340960

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 9935
• ClinVar RCV Id: RCV000010613 ; RCV000695028
• dbSNP Id: rs80338732
• MyVariant Identifiers: chrX:g.106884169T>C (hg19) ; chrX:g.107640939T>C (hg38)
• PubMed: PMID:17701900 ; PMID:20301731

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107640939T>C , CM000685.2:g.107640939T>C	GRCh38
NC_000023.10:g.106884169T>C , CM000685.1:g.106884169T>C	GRCh37
NC_000023.9:g.106770825T>C	NCBI36
NG_008407.1:g.17516T>C , LRG_264:g.17516T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.307-1427T>C	ENSP00000361495.2:n.307-1427T>C
ENST00000372435.10:c.344T>C MANE Select	ENSP00000361512.4:p.Met115Thr
ENST00000643795.2:c.344T>C	ENSP00000496286.1:p.Met115Thr
ENST00000644642.1:c.123-4238T>C	ENSP00000495493.1:n.123-4238T>C
ENST00000645903.1:n.438T>C
ENST00000674525.1:n.429T>C
ENST00000674826.1:c.*37T>C	ENSP00000502278.1:n.*37T>C
ENST00000675046.1:c.184+1461T>C
ENST00000675720.1:c.220T>C
ENST00000676092.1:c.344T>C	ENSP00000502780.1:p.Met115Thr
ENST00000372418.2:c.106-1427T>C	ENSP00000361495.1:n.106-1427T>C
ENST00000372419.3:c.344T>C	ENSP00000361496.3:p.Met115Thr
ENST00000372428.8:c.-82-4238T>C	ENSP00000361505.5:n.-82-4238T>C
ENST00000372435.8:c.344T>C	ENSP00000361512.4:p.Met115Thr
NM_001204402.1:c.-82-4238T>C	NP_001191331.1:n.-82-4238T>C
NM_002764.3:c.344T>C , LRG_264t1:c.344T>C	NP_002755.1:p.Met115Thr
NM_002764.4:c.344T>C MANE Select	NP_002755.1:p.Met115Thr
NM_001204402.2:c.-82-4238T>C	NP_001191331.1:n.-82-4238T>C