Canonical Allele Identifier: CA8629257

Gene: PNPO

Linked Data

• dbSNP Id: rs754990445
• ExAC: 17:46023952 G / A
• gnomAD v2: 17-46023952-G-A
• gnomAD v4: 17-47946586-G-A
• MyVariant Identifiers: chr17:g.46023952G>A (hg19) ; chr17:g.47946586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946586G>A , CM000679.2:g.47946586G>A	GRCh38
NC_000017.10:g.46023952G>A , CM000679.1:g.46023952G>A	GRCh37
NC_000017.9:g.43378951G>A	NCBI36
NG_008744.1:g.10064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.489-28G>A	ENSP00000225573.5:n.489-28G>A
ENST00000434554.7:c.564-28G>A	ENSP00000399960.3:n.564-28G>A
ENST00000582171.6:c.*283-28G>A	ENSP00000463994.1:n.*283-28G>A
ENST00000583599.6:c.378-28G>A	ENSP00000463919.2:n.378-28G>A
ENST00000584061.6:c.549-28G>A	ENSP00000463972.2:n.549-28G>A
ENST00000584806.2:n.287-28G>A
ENST00000641285.1:n.398-28G>A
ENST00000641305.1:n.2117-28G>A
ENST00000641323.1:c.*637-28G>A	ENSP00000492965.1:n.*637-28G>A
ENST00000641427.1:n.618-28G>A
ENST00000641511.1:c.350-28G>A
ENST00000641703.1:c.334-28G>A	ENSP00000493219.1:n.334-28G>A
ENST00000641709.1:c.*440-28G>A	ENSP00000493349.1:n.*440-28G>A
ENST00000641856.1:c.*1126-28G>A	ENSP00000493224.1:n.*1126-28G>A
ENST00000642017.2:c.618-28G>A MANE Select	ENSP00000493302.2:n.618-28G>A
ENST00000225573.4:c.618-28G>A	ENSP00000225573.4:n.618-28G>A
ENST00000434554.6:c.489-28G>A	ENSP00000399960.2:n.489-28G>A
ENST00000582171.5:c.*283-28G>A	ENSP00000463994.1:n.*283-28G>A
ENST00000584806.1:n.287-28G>A
ENST00000585320.5:c.*100-28G>A	ENSP00000462345.1:n.*100-28G>A
NM_018129.3:c.618-28G>A	NP_060599.1:n.618-28G>A
XM_005257500.2:c.378-28G>A	XP_005257557.1:n.378-28G>A
XM_011524968.1:c.333-28G>A	XP_011523270.1:n.333-28G>A
XM_005257500.3:c.378-28G>A	XP_005257557.1:n.378-28G>A
XM_011524968.2:c.333-28G>A	XP_011523270.1:n.333-28G>A
XM_017024813.1:c.378-28G>A	XP_016880302.1:n.378-28G>A
NM_018129.4:c.618-28G>A MANE Select	NP_060599.1:n.618-28G>A