Canonical Allele Identifier: CA10485593

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 422624
• ClinVar RCV Id: RCV000480712 ; RCV002063802 ; RCV002489166
• dbSNP Id: rs750392051
• ExAC: X:106882506 C / CT
• gnomAD v2: X-106882506-C-CT
• gnomAD v3: X-107639276-C-CT
• gnomAD v4: X-107639276-C-CT
• MyVariant Identifiers: chrX:g.106882509dupT (hg19) ; chrX:g.106882506_106882507insT (hg19) ; chrX:g.107639279dupT (hg38) ; chrX:g.107639276_107639277insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639279dup , CM000685.2:g.107639279dup	GRCh38
NC_000023.10:g.106882509dup , CM000685.1:g.106882509dup	GRCh37
NC_000023.9:g.106769165dup	NCBI36
NG_008407.1:g.15856dup , LRG_264:g.15856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.123-16dup	ENSP00000361495.2:n.123-16dup
ENST00000372435.10:c.123-16dup MANE Select	ENSP00000361512.4:n.123-16dup
ENST00000643795.2:c.123-16dup	ENSP00000496286.1:n.123-16dup
ENST00000644642.1:c.123-5898dup	ENSP00000495493.1:n.123-5898dup
ENST00000645638.1:c.*92-16dup	ENSP00000496554.1:n.*92-16dup
ENST00000645903.1:n.217-16dup
ENST00000674525.1:n.208-16dup
ENST00000674826.1:c.123-1623dup	ENSP00000502278.1:n.123-1623dup
ENST00000674843.1:c.225-16dup	ENSP00000502260.1:n.225-16dup
ENST00000675304.1:n.56-16dup
ENST00000676092.1:c.123-16dup	ENSP00000502780.1:n.123-16dup
ENST00000372419.3:c.123-16dup	ENSP00000361496.3:n.123-16dup
ENST00000372428.8:c.-82-5898dup	ENSP00000361505.5:n.-82-5898dup
ENST00000372435.8:c.123-16dup	ENSP00000361512.4:n.123-16dup
NM_001204402.1:c.-82-5898dup	NP_001191331.1:n.-82-5898dup
NM_002764.3:c.123-16dup , LRG_264t1:c.123-16dup	NP_002755.1:n.123-16dup
NM_002764.4:c.123-16dup MANE Select	NP_002755.1:n.123-16dup
NM_001204402.2:c.-82-5898dup	NP_001191331.1:n.-82-5898dup