Canonical Allele Identifier: CA400057369

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47944704G>C , CM000679.2:g.47944704G>C	GRCh38
NC_000017.10:g.46022070G>C , CM000679.1:g.46022070G>C	GRCh37
NC_000017.9:g.43377069G>C	NCBI36
NG_008744.1:g.8182G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.352G>C MANE Select	NP_060599.1:p.Gly118Arg
ENST00000642017.2:c.352G>C MANE Select	ENSP00000493302.2:p.Gly118Arg
NM_018129.3:c.352G>C	NP_060599.1:p.Gly118Arg
ENST00000225573.4:c.352G>C	ENSP00000225573.4:p.Gly118Arg
ENST00000225573.5:c.352G>C	ENSP00000225573.5:p.Gly118Arg
ENST00000434554.6:c.352G>C	ENSP00000399960.2:p.Gly118Arg
ENST00000434554.7:c.352G>C	ENSP00000399960.3:p.Gly118Arg
ENST00000582171.5:c.*17G>C	ENSP00000463994.1:n.*17G>C
ENST00000582171.6:c.*17G>C	ENSP00000463994.1:n.*17G>C
ENST00000583245.5:c.*371G>C	ENSP00000463520.1:n.*371G>C
ENST00000583245.6:n.320G>C
ENST00000583599.5:c.112G>C	ENSP00000463919.1:p.Gly38Arg
ENST00000583599.6:c.112G>C	ENSP00000463919.2:p.Gly38Arg
ENST00000584061.5:c.*174G>C	ENSP00000463972.1:n.*174G>C
ENST00000584061.6:c.322G>C	ENSP00000463972.2:p.Gly108Arg
ENST00000585320.5:c.*17G>C	ENSP00000462345.1:n.*17G>C
ENST00000641285.1:n.132G>C
ENST00000641305.1:n.427G>C
ENST00000641323.1:c.*371G>C	ENSP00000492965.1:n.*371G>C
ENST00000641427.1:n.352G>C
ENST00000641511.1:c.267G>C
ENST00000641703.1:c.122G>C	ENSP00000493219.1:n.122G>C
ENST00000641709.1:c.*174G>C	ENSP00000493349.1:n.*174G>C
ENST00000641856.1:c.*17G>C	ENSP00000493224.1:n.*17G>C
XM_005257500.2:c.112G>C	XP_005257557.1:p.Gly38Arg
XM_005257500.3:c.112G>C	XP_005257557.1:p.Gly38Arg
XM_011524968.1:c.67G>C	XP_011523270.1:p.Gly23Arg
XM_011524968.2:c.67G>C	XP_011523270.1:p.Gly23Arg
XM_017024813.1:c.112G>C	XP_016880302.1:p.Gly38Arg