Canonical Allele Identifier: CA2576306600

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946490-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946490G>A , CM000679.2:g.47946490G>A	GRCh38
NC_000017.10:g.46023856G>A , CM000679.1:g.46023856G>A	GRCh37
NC_000017.9:g.43378855G>A	NCBI36
NG_008744.1:g.9968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.488+97G>A	ENSP00000225573.5:n.488+97G>A
ENST00000434554.7:c.563+97G>A	ENSP00000399960.3:n.563+97G>A
ENST00000582171.6:c.*282+97G>A	ENSP00000463994.1:n.*282+97G>A
ENST00000583599.6:c.377+97G>A	ENSP00000463919.2:n.377+97G>A
ENST00000584061.6:c.548+97G>A	ENSP00000463972.2:n.548+97G>A
ENST00000584806.2:n.286+97G>A
ENST00000641285.1:n.397+97G>A
ENST00000641305.1:n.2116+97G>A
ENST00000641323.1:c.*636+97G>A	ENSP00000492965.1:n.*636+97G>A
ENST00000641427.1:n.617+97G>A
ENST00000641511.1:c.349+97G>A
ENST00000641703.1:c.333+97G>A	ENSP00000493219.1:n.333+97G>A
ENST00000641709.1:c.*439+97G>A	ENSP00000493349.1:n.*439+97G>A
ENST00000641856.1:c.*1125+97G>A	ENSP00000493224.1:n.*1125+97G>A
ENST00000642017.2:c.617+97G>A MANE Select	ENSP00000493302.2:n.617+97G>A
ENST00000225573.4:c.617+97G>A	ENSP00000225573.4:n.617+97G>A
ENST00000434554.6:c.488+97G>A	ENSP00000399960.2:n.488+97G>A
ENST00000582171.5:c.*282+97G>A	ENSP00000463994.1:n.*282+97G>A
ENST00000584806.1:n.286+97G>A
ENST00000585320.5:c.*99+97G>A	ENSP00000462345.1:n.*99+97G>A
NM_018129.3:c.617+97G>A	NP_060599.1:n.617+97G>A
XM_005257500.2:c.377+97G>A	XP_005257557.1:n.377+97G>A
XM_011524968.1:c.332+97G>A	XP_011523270.1:n.332+97G>A
XM_005257500.3:c.377+97G>A	XP_005257557.1:n.377+97G>A
XM_011524968.2:c.332+97G>A	XP_011523270.1:n.332+97G>A
XM_017024813.1:c.377+97G>A	XP_016880302.1:n.377+97G>A
NM_018129.4:c.617+97G>A MANE Select	NP_060599.1:n.617+97G>A