Canonical Allele Identifier: CA10485695

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107649951C>T , CM000685.2:g.107649951C>T	GRCh38
NC_000023.10:g.106893181C>T , CM000685.1:g.106893181C>T	GRCh37
NC_000023.9:g.106779837C>T	NCBI36
NG_008407.1:g.26528C>T , LRG_264:g.26528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.777C>T	ENSP00000361495.2:p.Ile259=
ENST00000372428.9:c.259C>T
ENST00000372435.10:c.876C>T MANE Select	ENSP00000361512.4:p.Ile292=
ENST00000643795.2:c.802-627C>T	ENSP00000496286.1:n.802-627C>T
ENST00000644642.1:c.*345C>T	ENSP00000495493.1:n.*345C>T
ENST00000674826.1:c.*569C>T	ENSP00000502278.1:n.*569C>T
ENST00000675263.1:c.12C>T	ENSP00000502081.1:p.Ile4=
ENST00000675353.1:c.468C>T
ENST00000675875.1:c.22-665C>T
ENST00000676092.1:c.*4C>T	ENSP00000502780.1:n.*4C>T
ENST00000676322.1:c.12C>T	ENSP00000501977.1:p.Ile4=
ENST00000676365.1:c.444C>T
ENST00000372418.2:c.576C>T	ENSP00000361495.1:p.Ile192=
ENST00000372428.8:c.264C>T	ENSP00000361505.5:p.Ile88=
ENST00000372435.8:c.876C>T	ENSP00000361512.4:p.Ile292=
NM_001204402.1:c.264C>T	NP_001191331.1:p.Ile88=
NM_002764.3:c.876C>T , LRG_264t1:c.876C>T	NP_002755.1:p.Ile292=
NM_002764.4:c.876C>T MANE Select	NP_002755.1:p.Ile292=
NM_001204402.2:c.264C>T	NP_001191331.1:p.Ile88=