Canonical Allele Identifier: CA10485689

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107647806T>A , CM000685.2:g.107647806T>A	GRCh38
NC_000023.10:g.106891036T>A , CM000685.1:g.106891036T>A	GRCh37
NC_000023.9:g.106777692T>A	NCBI36
NG_008407.1:g.24383T>A , LRG_264:g.24383T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.864+41T>A MANE Select	NP_002755.1:n.864+41T>A
ENST00000372435.10:c.864+41T>A MANE Select	ENSP00000361512.4:n.864+41T>A
NM_001204402.1:c.252+41T>A	NP_001191331.1:n.252+41T>A
NM_001204402.2:c.252+41T>A	NP_001191331.1:n.252+41T>A
NM_002764.3:c.864+41T>A , LRG_264t1:c.864+41T>A	NP_002755.1:n.864+41T>A
ENST00000372418.2:c.564+41T>A	ENSP00000361495.1:n.564+41T>A
ENST00000372418.4:c.765+41T>A	ENSP00000361495.2:n.765+41T>A
ENST00000372428.8:c.252+41T>A	ENSP00000361505.5:n.252+41T>A
ENST00000372428.9:c.160+41T>A
ENST00000372435.8:c.864+41T>A	ENSP00000361512.4:n.864+41T>A
ENST00000643795.2:c.801+104T>A	ENSP00000496286.1:n.801+104T>A
ENST00000644642.1:c.*333+41T>A	ENSP00000495493.1:n.*333+41T>A
ENST00000674826.1:c.*557+41T>A	ENSP00000502278.1:n.*557+41T>A
ENST00000675353.1:c.456+41T>A
ENST00000675875.1:c.21+2609T>A
ENST00000676092.1:c.359-2134T>A	ENSP00000502780.1:n.359-2134T>A
ENST00000676365.1:c.432+41T>A