Canonical Allele Identifier: CA8629176

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945608G>A , CM000679.2:g.47945608G>A	GRCh38
NC_000017.10:g.46022974G>A , CM000679.1:g.46022974G>A	GRCh37
NC_000017.9:g.43377973G>A	NCBI36
NG_008744.1:g.9086G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.413G>A MANE Select	NP_060599.1:p.Arg138His
ENST00000642017.2:c.413G>A MANE Select	ENSP00000493302.2:p.Arg138His
NM_018129.3:c.413G>A	NP_060599.1:p.Arg138His
ENST00000225573.4:c.413G>A	ENSP00000225573.4:p.Arg138His
ENST00000225573.5:c.413G>A	ENSP00000225573.5:p.Arg138His
ENST00000434554.6:c.413G>A	ENSP00000399960.2:p.Arg138His
ENST00000434554.7:c.364-253G>A	ENSP00000399960.3:n.364-253G>A
ENST00000582171.5:c.*78G>A	ENSP00000463994.1:n.*78G>A
ENST00000582171.6:c.*78G>A	ENSP00000463994.1:n.*78G>A
ENST00000583245.5:c.*432G>A	ENSP00000463520.1:n.*432G>A
ENST00000583245.6:n.381G>A
ENST00000583599.5:c.173G>A	ENSP00000463919.1:p.Arg58His
ENST00000583599.6:c.173G>A	ENSP00000463919.2:p.Arg58His
ENST00000584061.5:c.*235G>A	ENSP00000463972.1:n.*235G>A
ENST00000584061.6:c.344G>A	ENSP00000463972.2:p.Arg115His
ENST00000584806.1:n.211G>A
ENST00000584806.2:n.211G>A
ENST00000585320.5:c.*29-715G>A	ENSP00000462345.1:n.*29-715G>A
ENST00000641285.1:n.193G>A
ENST00000641305.1:n.1331G>A
ENST00000641323.1:c.*432G>A	ENSP00000492965.1:n.*432G>A
ENST00000641427.1:n.413G>A
ENST00000641511.1:c.279-715G>A
ENST00000641703.1:c.134-253G>A	ENSP00000493219.1:n.134-253G>A
ENST00000641709.1:c.*235G>A	ENSP00000493349.1:n.*235G>A
ENST00000641856.1:c.*921G>A	ENSP00000493224.1:n.*921G>A
XM_005257500.2:c.173G>A	XP_005257557.1:p.Arg58His
XM_005257500.3:c.173G>A	XP_005257557.1:p.Arg58His
XM_011524968.1:c.128G>A	XP_011523270.1:p.Arg43His
XM_011524968.2:c.128G>A	XP_011523270.1:p.Arg43His
XM_017024813.1:c.173G>A	XP_016880302.1:p.Arg58His