Canonical Allele Identifier: CA10485591

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 1216628
• ClinVar RCV Id: RCV001587009
• dbSNP Id: rs373779872
• ExAC: X:106882489 A / G
• gnomAD v2: X-106882489-A-G
• gnomAD v3: X-107639259-A-G
• gnomAD v4: X-107639259-A-G
• MyVariant Identifiers: chrX:g.106882489A>G (hg19) ; chrX:g.107639259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639259A>G , CM000685.2:g.107639259A>G	GRCh38
NC_000023.10:g.106882489A>G , CM000685.1:g.106882489A>G	GRCh37
NC_000023.9:g.106769145A>G	NCBI36
NG_008407.1:g.15836A>G , LRG_264:g.15836A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372418.4:c.123-36A>G	ENSP00000361495.2:n.123-36A>G
ENST00000372435.10:c.123-36A>G MANE Select	ENSP00000361512.4:n.123-36A>G
ENST00000643795.2:c.123-36A>G	ENSP00000496286.1:n.123-36A>G
ENST00000644642.1:c.123-5918A>G	ENSP00000495493.1:n.123-5918A>G
ENST00000645638.1:c.*92-36A>G	ENSP00000496554.1:n.*92-36A>G
ENST00000645903.1:n.217-36A>G
ENST00000674525.1:n.208-36A>G
ENST00000674826.1:c.123-1643A>G	ENSP00000502278.1:n.123-1643A>G
ENST00000674843.1:c.225-36A>G	ENSP00000502260.1:n.225-36A>G
ENST00000675304.1:n.56-36A>G
ENST00000676092.1:c.123-36A>G	ENSP00000502780.1:n.123-36A>G
ENST00000372419.3:c.123-36A>G	ENSP00000361496.3:n.123-36A>G
ENST00000372428.8:c.-82-5918A>G	ENSP00000361505.5:n.-82-5918A>G
ENST00000372435.8:c.123-36A>G	ENSP00000361512.4:n.123-36A>G
NM_001204402.1:c.-82-5918A>G	NP_001191331.1:n.-82-5918A>G
NM_002764.3:c.123-36A>G , LRG_264t1:c.123-36A>G	NP_002755.1:n.123-36A>G
NM_002764.4:c.123-36A>G MANE Select	NP_002755.1:n.123-36A>G
NM_001204402.2:c.-82-5918A>G	NP_001191331.1:n.-82-5918A>G