Canonical Allele Identifier: CA2694407234

Gene: PRPS1

Linked Data

• gnomAD v4: X-107639243-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639243G>T , CM000685.2:g.107639243G>T	GRCh38
NC_000023.10:g.106882473G>T , CM000685.1:g.106882473G>T	GRCh37
NC_000023.9:g.106769129G>T	NCBI36
NG_008407.1:g.15820G>T , LRG_264:g.15820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.123-52G>T	ENSP00000361495.2:n.123-52G>T
ENST00000372435.10:c.123-52G>T MANE Select	ENSP00000361512.4:n.123-52G>T
ENST00000643795.2:c.123-52G>T	ENSP00000496286.1:n.123-52G>T
ENST00000644642.1:c.123-5934G>T	ENSP00000495493.1:n.123-5934G>T
ENST00000645638.1:c.*92-52G>T	ENSP00000496554.1:n.*92-52G>T
ENST00000645903.1:n.217-52G>T
ENST00000674525.1:n.208-52G>T
ENST00000674826.1:c.123-1659G>T	ENSP00000502278.1:n.123-1659G>T
ENST00000674843.1:c.225-52G>T	ENSP00000502260.1:n.225-52G>T
ENST00000675304.1:n.56-52G>T
ENST00000676092.1:c.123-52G>T	ENSP00000502780.1:n.123-52G>T
ENST00000372419.3:c.123-52G>T	ENSP00000361496.3:n.123-52G>T
ENST00000372428.8:c.-82-5934G>T	ENSP00000361505.5:n.-82-5934G>T
ENST00000372435.8:c.123-52G>T	ENSP00000361512.4:n.123-52G>T
NM_001204402.1:c.-82-5934G>T	NP_001191331.1:n.-82-5934G>T
NM_002764.3:c.123-52G>T , LRG_264t1:c.123-52G>T	NP_002755.1:n.123-52G>T
NM_002764.4:c.123-52G>T MANE Select	NP_002755.1:n.123-52G>T
NM_001204402.2:c.-82-5934G>T	NP_001191331.1:n.-82-5934G>T