Canonical Allele Identifier: CA400063209

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024092G>C (hg19) ; chr17:g.47946726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946726G>C , CM000679.2:g.47946726G>C	GRCh38
NC_000017.10:g.46024092G>C , CM000679.1:g.46024092G>C	GRCh37
NC_000017.9:g.43379091G>C	NCBI36
NG_008744.1:g.10204G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.601G>C	ENSP00000225573.5:p.Gly201Arg
ENST00000434554.7:c.676G>C	ENSP00000399960.3:p.Gly226Arg
ENST00000582171.6:c.*395G>C	ENSP00000463994.1:n.*395G>C
ENST00000583599.6:c.490G>C	ENSP00000463919.2:p.Gly164Arg
ENST00000584061.6:c.661G>C	ENSP00000463972.2:p.Gly221Arg
ENST00000584806.2:n.399G>C
ENST00000641305.1:n.2229G>C
ENST00000641323.1:c.*749G>C	ENSP00000492965.1:n.*749G>C
ENST00000641427.1:n.730G>C
ENST00000641703.1:c.446G>C	ENSP00000493219.1:n.446G>C
ENST00000641709.1:c.*552G>C	ENSP00000493349.1:n.*552G>C
ENST00000641856.1:c.*1238G>C	ENSP00000493224.1:n.*1238G>C
ENST00000642017.2:c.730G>C MANE Select	ENSP00000493302.2:p.Gly244Arg
ENST00000225573.4:c.730G>C	ENSP00000225573.4:p.Gly244Arg
ENST00000434554.6:c.601G>C	ENSP00000399960.2:p.Gly201Arg
ENST00000582171.5:c.*395G>C	ENSP00000463994.1:n.*395G>C
ENST00000584806.1:n.399G>C
ENST00000585320.5:c.*212G>C	ENSP00000462345.1:n.*212G>C
NM_018129.3:c.730G>C	NP_060599.1:p.Gly244Arg
XM_005257500.2:c.490G>C	XP_005257557.1:p.Gly164Arg
XM_011524968.1:c.445G>C	XP_011523270.1:p.Gly149Arg
XM_005257500.3:c.490G>C	XP_005257557.1:p.Gly164Arg
XM_011524968.2:c.445G>C	XP_011523270.1:p.Gly149Arg
XM_017024813.1:c.490G>C	XP_016880302.1:p.Gly164Arg
NM_018129.4:c.730G>C MANE Select	NP_060599.1:p.Gly244Arg