Canonical Allele Identifier: CA2638499750

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946930-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946930C>A , CM000679.2:g.47946930C>A	GRCh38
NC_000017.10:g.46024296C>A , CM000679.1:g.46024296C>A	GRCh37
NC_000017.9:g.43379295C>A	NCBI36
NG_008744.1:g.10408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*148C>A	ENSP00000225573.5:n.*148C>A
ENST00000434554.7:c.*148C>A	ENSP00000399960.3:n.*148C>A
ENST00000582171.6:c.*599C>A	ENSP00000463994.1:n.*599C>A
ENST00000584806.2:n.603C>A
ENST00000641305.1:n.2433C>A
ENST00000641323.1:c.*953C>A	ENSP00000492965.1:n.*953C>A
ENST00000641427.1:n.934C>A
ENST00000641703.1:c.650C>A	ENSP00000493219.1:n.650C>A
ENST00000641709.1:c.*756C>A	ENSP00000493349.1:n.*756C>A
ENST00000641856.1:c.*1442C>A	ENSP00000493224.1:n.*1442C>A
ENST00000642017.2:c.*148C>A MANE Select	ENSP00000493302.2:n.*148C>A
ENST00000225573.4:c.*148C>A	ENSP00000225573.4:n.*148C>A
ENST00000434554.6:c.*148C>A	ENSP00000399960.2:n.*148C>A
ENST00000582171.5:c.*599C>A	ENSP00000463994.1:n.*599C>A
NM_018129.3:c.*148C>A	NP_060599.1:n.*148C>A
XM_005257500.2:c.*148C>A	XP_005257557.1:n.*148C>A
XM_011524968.1:c.*148C>A	XP_011523270.1:n.*148C>A
XM_005257500.3:c.*148C>A	XP_005257557.1:n.*148C>A
XM_011524968.2:c.*148C>A	XP_011523270.1:n.*148C>A
XM_017024813.1:c.*148C>A	XP_016880302.1:n.*148C>A
NM_018129.4:c.*148C>A MANE Select	NP_060599.1:n.*148C>A