Canonical Allele Identifier: CA400055211

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47941814G>A , CM000679.2:g.47941814G>A	GRCh38
NC_000017.10:g.46019180G>A , CM000679.1:g.46019180G>A	GRCh37
NC_000017.9:g.43374179G>A	NCBI36
NG_008744.1:g.5292G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.138+1G>A MANE Select	NP_060599.1:n.138+1G>A
ENST00000642017.2:c.138+1G>A MANE Select	ENSP00000493302.2:n.138+1G>A
NM_018129.3:c.138+1G>A	NP_060599.1:n.138+1G>A
ENST00000225573.4:c.138+1G>A	ENSP00000225573.4:n.138+1G>A
ENST00000225573.5:c.138+1G>A	ENSP00000225573.5:n.138+1G>A
ENST00000434554.6:c.138+1G>A	ENSP00000399960.2:n.138+1G>A
ENST00000434554.7:c.138+1G>A	ENSP00000399960.3:n.138+1G>A
ENST00000582171.5:c.138+1G>A	ENSP00000463994.1:n.138+1G>A
ENST00000582171.6:c.138+1G>A	ENSP00000463994.1:n.138+1G>A
ENST00000583245.5:c.139G>A	ENSP00000463520.1:p.Val47Met
ENST00000583245.6:n.106+1G>A
ENST00000583599.5:c.-103+212G>A	ENSP00000463919.1:n.-103+212G>A
ENST00000583599.6:c.-103+212G>A	ENSP00000463919.2:n.-103+212G>A
ENST00000584061.5:c.138+1G>A	ENSP00000463972.1:n.138+1G>A
ENST00000584061.6:c.108+1G>A	ENSP00000463972.2:n.108+1G>A
ENST00000585320.5:c.138+1G>A	ENSP00000462345.1:n.138+1G>A
ENST00000641305.1:n.213+1G>A
ENST00000641323.1:c.139G>A	ENSP00000492965.1:p.Val47Met
ENST00000641511.1:c.53+1G>A
ENST00000641703.1:c.33+1G>A	ENSP00000493219.1:n.33+1G>A
ENST00000641709.1:c.138+1G>A	ENSP00000493349.1:n.138+1G>A
ENST00000641856.1:c.138+1G>A	ENSP00000493224.1:n.138+1G>A
XM_005257500.2:c.-340G>A	XP_005257557.1:n.-340G>A
XM_005257500.3:c.-340G>A	XP_005257557.1:n.-340G>A
XM_011524968.1:c.-23+1G>A	XP_011523270.1:n.-23+1G>A
XM_011524968.2:c.-23+1G>A	XP_011523270.1:n.-23+1G>A
XM_017024813.1:c.-103+212G>A	XP_016880302.1:n.-103+212G>A