Canonical Allele Identifier: CA413804491

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 1698319
• ClinVar RCV Id: RCV002269742
• dbSNP Id: rs2147681410
• MyVariant Identifiers: chrX:g.106882562T>C (hg19) ; chrX:g.107639332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639332T>C , CM000685.2:g.107639332T>C	GRCh38
NC_000023.10:g.106882562T>C , CM000685.1:g.106882562T>C	GRCh37
NC_000023.9:g.106769218T>C	NCBI36
NG_008407.1:g.15909T>C , LRG_264:g.15909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.160T>C	ENSP00000361495.2:p.Tyr54His
ENST00000372435.10:c.160T>C MANE Select	ENSP00000361512.4:p.Tyr54His
ENST00000643795.2:c.160T>C	ENSP00000496286.1:p.Tyr54His
ENST00000644642.1:c.123-5845T>C	ENSP00000495493.1:n.123-5845T>C
ENST00000645638.1:c.*129T>C	ENSP00000496554.1:n.*129T>C
ENST00000645903.1:n.254T>C
ENST00000674525.1:n.245T>C
ENST00000674826.1:c.123-1570T>C	ENSP00000502278.1:n.123-1570T>C
ENST00000674843.1:c.262T>C	ENSP00000502260.1:n.262T>C
ENST00000675046.1:c.38T>C
ENST00000675304.1:n.93T>C
ENST00000675720.1:c.38T>C
ENST00000676092.1:c.160T>C	ENSP00000502780.1:p.Tyr54His
ENST00000372419.3:c.160T>C	ENSP00000361496.3:p.Tyr54His
ENST00000372428.8:c.-82-5845T>C	ENSP00000361505.5:n.-82-5845T>C
ENST00000372435.8:c.160T>C	ENSP00000361512.4:p.Tyr54His
NM_001204402.1:c.-82-5845T>C	NP_001191331.1:n.-82-5845T>C
NM_002764.3:c.160T>C , LRG_264t1:c.160T>C	NP_002755.1:p.Tyr54His
NM_002764.4:c.160T>C MANE Select	NP_002755.1:p.Tyr54His
NM_001204402.2:c.-82-5845T>C	NP_001191331.1:n.-82-5845T>C