Canonical Allele Identifier: CA10645822

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 367710
• ClinVar RCV Id: RCV000291842 ; RCV000349093 ; RCV000384374
• dbSNP Id: rs183744100
• gnomAD v2: X-106893987-T-C
• gnomAD v3: X-107650757-T-C
• gnomAD v4: X-107650757-T-C
• MyVariant Identifiers: chrX:g.106893987T>C (hg19) ; chrX:g.107650757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107650757T>C , CM000685.2:g.107650757T>C	GRCh38
NC_000023.10:g.106893987T>C , CM000685.1:g.106893987T>C	GRCh37
NC_000023.9:g.106780643T>C	NCBI36
NG_008407.1:g.27334T>C , LRG_264:g.27334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372428.9:c.1065T>C
ENST00000372435.10:c.*725T>C MANE Select	ENSP00000361512.4:n.*725T>C
ENST00000643795.2:c.*15T>C	ENSP00000496286.1:n.*15T>C
ENST00000644642.1:c.*1151T>C	ENSP00000495493.1:n.*1151T>C
ENST00000675263.1:c.218+600T>C	ENSP00000502081.1:n.218+600T>C
ENST00000675875.1:c.163T>C
ENST00000676322.1:c.763T>C	ENSP00000501977.1:n.763T>C
ENST00000372428.8:c.*725T>C	ENSP00000361505.5:n.*725T>C
ENST00000372435.8:c.*725T>C	ENSP00000361512.4:n.*725T>C
NM_001204402.1:c.*725T>C	NP_001191331.1:n.*725T>C
NM_002764.3:c.*725T>C , LRG_264t1:c.*725T>C	NP_002755.1:n.*725T>C
NM_002764.4:c.*725T>C MANE Select	NP_002755.1:n.*725T>C
NM_001204402.2:c.*725T>C	NP_001191331.1:n.*725T>C