Canonical Allele Identifier: CA413805362

Gene: PRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639422C>T , CM000685.2:g.107639422C>T	GRCh38
NC_000023.10:g.106882652C>T , CM000685.1:g.106882652C>T	GRCh37
NC_000023.9:g.106769308C>T	NCBI36
NG_008407.1:g.15999C>T , LRG_264:g.15999C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002764.4:c.250C>T MANE Select	NP_002755.1:p.Arg84Trp
ENST00000372435.10:c.250C>T MANE Select	ENSP00000361512.4:p.Arg84Trp
NM_001204402.1:c.-82-5755C>T	NP_001191331.1:n.-82-5755C>T
NM_001204402.2:c.-82-5755C>T	NP_001191331.1:n.-82-5755C>T
NM_002764.3:c.250C>T , LRG_264t1:c.250C>T	NP_002755.1:p.Arg84Trp
ENST00000372418.2:c.49C>T	ENSP00000361495.1:p.Arg17Trp
ENST00000372418.4:c.250C>T	ENSP00000361495.2:p.Arg84Trp
ENST00000372419.3:c.250C>T	ENSP00000361496.3:p.Arg84Trp
ENST00000372428.8:c.-82-5755C>T	ENSP00000361505.5:n.-82-5755C>T
ENST00000372435.8:c.250C>T	ENSP00000361512.4:p.Arg84Trp
ENST00000643795.2:c.250C>T	ENSP00000496286.1:p.Arg84Trp
ENST00000644642.1:c.123-5755C>T	ENSP00000495493.1:n.123-5755C>T
ENST00000645638.1:c.*219C>T	ENSP00000496554.1:n.*219C>T
ENST00000645903.1:n.344C>T
ENST00000674525.1:n.335C>T
ENST00000674826.1:c.123-1480C>T	ENSP00000502278.1:n.123-1480C>T
ENST00000674843.1:c.352C>T	ENSP00000502260.1:n.352C>T
ENST00000675046.1:c.128C>T
ENST00000675304.1:n.183C>T
ENST00000675720.1:c.128C>T
ENST00000676092.1:c.250C>T	ENSP00000502780.1:p.Arg84Trp