Canonical Allele Identifier: CA352184

Gene: PRPS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107628674T>C , CM000685.2:g.107628674T>C	GRCh38
NC_000023.10:g.106871904T>C , CM000685.1:g.106871904T>C	GRCh37
NC_000023.9:g.106758560T>C	NCBI36
NG_008407.1:g.5251T>C , LRG_264:g.5251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.46T>C	ENSP00000361495.2:p.Ser16Pro
ENST00000372435.10:c.46T>C MANE Select	ENSP00000361512.4:p.Ser16Pro
ENST00000643795.2:c.46T>C	ENSP00000496286.1:p.Ser16Pro
ENST00000644642.1:c.46T>C	ENSP00000495493.1:p.Ser16Pro
ENST00000645638.1:c.46T>C	ENSP00000496554.1:p.Ser16Pro
ENST00000645903.1:n.140T>C
ENST00000646815.1:c.46T>C	ENSP00000495801.1:p.Ser16Pro
ENST00000674525.1:n.131T>C
ENST00000674826.1:c.46T>C	ENSP00000502278.1:p.Ser16Pro
ENST00000674843.1:c.46T>C	ENSP00000502260.1:p.Ser16Pro
ENST00000675304.1:n.55+192T>C
ENST00000676092.1:c.46T>C	ENSP00000502780.1:p.Ser16Pro
ENST00000372419.3:c.46T>C	ENSP00000361496.3:p.Ser16Pro
ENST00000372428.8:c.-159T>C	ENSP00000361505.5:n.-159T>C
ENST00000372435.8:c.46T>C	ENSP00000361512.4:p.Ser16Pro
NM_001204402.1:c.-159T>C	NP_001191331.1:n.-159T>C
NM_002764.3:c.46T>C , LRG_264t1:c.46T>C	NP_002755.1:p.Ser16Pro
NM_002764.4:c.46T>C MANE Select	NP_002755.1:p.Ser16Pro
NM_001204402.2:c.-159T>C	NP_001191331.1:n.-159T>C