Canonical Allele Identifier: CA2638499749

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946927-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946927G>T , CM000679.2:g.47946927G>T	GRCh38
NC_000017.10:g.46024293G>T , CM000679.1:g.46024293G>T	GRCh37
NC_000017.9:g.43379292G>T	NCBI36
NG_008744.1:g.10405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*145G>T	ENSP00000225573.5:n.*145G>T
ENST00000434554.7:c.*145G>T	ENSP00000399960.3:n.*145G>T
ENST00000582171.6:c.*596G>T	ENSP00000463994.1:n.*596G>T
ENST00000584806.2:n.600G>T
ENST00000641305.1:n.2430G>T
ENST00000641323.1:c.*950G>T	ENSP00000492965.1:n.*950G>T
ENST00000641427.1:n.931G>T
ENST00000641703.1:c.647G>T	ENSP00000493219.1:n.647G>T
ENST00000641709.1:c.*753G>T	ENSP00000493349.1:n.*753G>T
ENST00000641856.1:c.*1439G>T	ENSP00000493224.1:n.*1439G>T
ENST00000642017.2:c.*145G>T MANE Select	ENSP00000493302.2:n.*145G>T
ENST00000225573.4:c.*145G>T	ENSP00000225573.4:n.*145G>T
ENST00000434554.6:c.*145G>T	ENSP00000399960.2:n.*145G>T
ENST00000582171.5:c.*596G>T	ENSP00000463994.1:n.*596G>T
NM_018129.3:c.*145G>T	NP_060599.1:n.*145G>T
XM_005257500.2:c.*145G>T	XP_005257557.1:n.*145G>T
XM_011524968.1:c.*145G>T	XP_011523270.1:n.*145G>T
XM_005257500.3:c.*145G>T	XP_005257557.1:n.*145G>T
XM_011524968.2:c.*145G>T	XP_011523270.1:n.*145G>T
XM_017024813.1:c.*145G>T	XP_016880302.1:n.*145G>T
NM_018129.4:c.*145G>T MANE Select	NP_060599.1:n.*145G>T