Canonical Allele Identifier: CA2576306612

Gene: PNPO

Linked Data

• ClinVar Variation Id: 2892043
• ClinVar RCV Id: RCV003617208
• gnomAD v4: 17-47946601-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946601C>T , CM000679.2:g.47946601C>T	GRCh38
NC_000017.10:g.46023967C>T , CM000679.1:g.46023967C>T	GRCh37
NC_000017.9:g.43378966C>T	NCBI36
NG_008744.1:g.10079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.489-13C>T	ENSP00000225573.5:n.489-13C>T
ENST00000434554.7:c.564-13C>T	ENSP00000399960.3:n.564-13C>T
ENST00000582171.6:c.*283-13C>T	ENSP00000463994.1:n.*283-13C>T
ENST00000583599.6:c.378-13C>T	ENSP00000463919.2:n.378-13C>T
ENST00000584061.6:c.549-13C>T	ENSP00000463972.2:n.549-13C>T
ENST00000584806.2:n.287-13C>T
ENST00000641285.1:n.398-13C>T
ENST00000641305.1:n.2117-13C>T
ENST00000641323.1:c.*637-13C>T	ENSP00000492965.1:n.*637-13C>T
ENST00000641427.1:n.618-13C>T
ENST00000641511.1:c.350-13C>T
ENST00000641703.1:c.334-13C>T	ENSP00000493219.1:n.334-13C>T
ENST00000641709.1:c.*440-13C>T	ENSP00000493349.1:n.*440-13C>T
ENST00000641856.1:c.*1126-13C>T	ENSP00000493224.1:n.*1126-13C>T
ENST00000642017.2:c.618-13C>T MANE Select	ENSP00000493302.2:n.618-13C>T
ENST00000225573.4:c.618-13C>T	ENSP00000225573.4:n.618-13C>T
ENST00000434554.6:c.489-13C>T	ENSP00000399960.2:n.489-13C>T
ENST00000582171.5:c.*283-13C>T	ENSP00000463994.1:n.*283-13C>T
ENST00000584806.1:n.287-13C>T
ENST00000585320.5:c.*100-13C>T	ENSP00000462345.1:n.*100-13C>T
NM_018129.3:c.618-13C>T	NP_060599.1:n.618-13C>T
XM_005257500.2:c.378-13C>T	XP_005257557.1:n.378-13C>T
XM_011524968.1:c.333-13C>T	XP_011523270.1:n.333-13C>T
XM_005257500.3:c.378-13C>T	XP_005257557.1:n.378-13C>T
XM_011524968.2:c.333-13C>T	XP_011523270.1:n.333-13C>T
XM_017024813.1:c.378-13C>T	XP_016880302.1:n.378-13C>T
NM_018129.4:c.618-13C>T MANE Select	NP_060599.1:n.618-13C>T