Canonical Allele Identifier: CA413816587

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107650000G>A , CM000685.2:g.107650000G>A	GRCh38
NC_000023.10:g.106893230G>A , CM000685.1:g.106893230G>A	GRCh37
NC_000023.9:g.106779886G>A	NCBI36
NG_008407.1:g.26577G>A , LRG_264:g.26577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.826G>A	ENSP00000361495.2:p.Val276Ile
ENST00000372428.9:c.308G>A
ENST00000372435.10:c.925G>A MANE Select	ENSP00000361512.4:p.Val309Ile
ENST00000643795.2:c.802-578G>A	ENSP00000496286.1:n.802-578G>A
ENST00000644642.1:c.*394G>A	ENSP00000495493.1:n.*394G>A
ENST00000674826.1:c.*618G>A	ENSP00000502278.1:n.*618G>A
ENST00000675263.1:c.61G>A	ENSP00000502081.1:p.Val21Ile
ENST00000675353.1:c.517G>A
ENST00000675875.1:c.22-616G>A
ENST00000676092.1:c.*53G>A	ENSP00000502780.1:n.*53G>A
ENST00000676322.1:c.61G>A	ENSP00000501977.1:p.Val21Ile
ENST00000676365.1:c.493G>A
ENST00000372418.2:c.625G>A	ENSP00000361495.1:p.Val209Ile
ENST00000372428.8:c.313G>A	ENSP00000361505.5:p.Val105Ile
ENST00000372435.8:c.925G>A	ENSP00000361512.4:p.Val309Ile
NM_001204402.1:c.313G>A	NP_001191331.1:p.Val105Ile
NM_002764.3:c.925G>A , LRG_264t1:c.925G>A	NP_002755.1:p.Val309Ile
NM_002764.4:c.925G>A MANE Select	NP_002755.1:p.Val309Ile
NM_001204402.2:c.313G>A	NP_001191331.1:p.Val105Ile