Canonical Allele Identifier: CA500453840

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946638-G-A
• MyVariant Identifiers: chr17:g.46024004G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946638G>A , CM000679.2:g.47946638G>A	GRCh38
NC_000017.10:g.46024004G>A , CM000679.1:g.46024004G>A	GRCh37
NC_000017.9:g.43379003G>A	NCBI36
NG_008744.1:g.10116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.513G>A	ENSP00000225573.5:p.Gln171=
ENST00000434554.7:c.588G>A	ENSP00000399960.3:p.Gln196=
ENST00000582171.6:c.*307G>A	ENSP00000463994.1:n.*307G>A
ENST00000583599.6:c.402G>A	ENSP00000463919.2:p.Gln134=
ENST00000584061.6:c.573G>A	ENSP00000463972.2:p.Gln191=
ENST00000584806.2:n.311G>A
ENST00000641285.1:n.422G>A
ENST00000641305.1:n.2141G>A
ENST00000641323.1:c.*661G>A	ENSP00000492965.1:n.*661G>A
ENST00000641427.1:n.642G>A
ENST00000641511.1:c.374G>A
ENST00000641703.1:c.358G>A	ENSP00000493219.1:n.358G>A
ENST00000641709.1:c.*464G>A	ENSP00000493349.1:n.*464G>A
ENST00000641856.1:c.*1150G>A	ENSP00000493224.1:n.*1150G>A
ENST00000642017.2:c.642G>A MANE Select	ENSP00000493302.2:p.Gln214=
ENST00000225573.4:c.642G>A	ENSP00000225573.4:p.Gln214=
ENST00000434554.6:c.513G>A	ENSP00000399960.2:p.Gln171=
ENST00000582171.5:c.*307G>A	ENSP00000463994.1:n.*307G>A
ENST00000584806.1:n.311G>A
ENST00000585320.5:c.*124G>A	ENSP00000462345.1:n.*124G>A
NM_018129.3:c.642G>A	NP_060599.1:p.Gln214=
XM_005257500.2:c.402G>A	XP_005257557.1:p.Gln134=
XM_011524968.1:c.357G>A	XP_011523270.1:p.Gln119=
XM_005257500.3:c.402G>A	XP_005257557.1:p.Gln134=
XM_011524968.2:c.357G>A	XP_011523270.1:p.Gln119=
XM_017024813.1:c.402G>A	XP_016880302.1:p.Gln134=
NM_018129.4:c.642G>A MANE Select	NP_060599.1:p.Gln214=