Canonical Allele Identifier: CA400062389

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024024G>A (hg19) ; chr17:g.47946658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946658G>A , CM000679.2:g.47946658G>A	GRCh38
NC_000017.10:g.46024024G>A , CM000679.1:g.46024024G>A	GRCh37
NC_000017.9:g.43379023G>A	NCBI36
NG_008744.1:g.10136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.533G>A	ENSP00000225573.5:p.Gly178Asp
ENST00000434554.7:c.608G>A	ENSP00000399960.3:p.Gly203Asp
ENST00000582171.6:c.*327G>A	ENSP00000463994.1:n.*327G>A
ENST00000583599.6:c.422G>A	ENSP00000463919.2:p.Gly141Asp
ENST00000584061.6:c.593G>A	ENSP00000463972.2:p.Gly198Asp
ENST00000584806.2:n.331G>A
ENST00000641285.1:n.442G>A
ENST00000641305.1:n.2161G>A
ENST00000641323.1:c.*681G>A	ENSP00000492965.1:n.*681G>A
ENST00000641427.1:n.662G>A
ENST00000641511.1:c.394G>A
ENST00000641703.1:c.378G>A	ENSP00000493219.1:n.378G>A
ENST00000641709.1:c.*484G>A	ENSP00000493349.1:n.*484G>A
ENST00000641856.1:c.*1170G>A	ENSP00000493224.1:n.*1170G>A
ENST00000642017.2:c.662G>A MANE Select	ENSP00000493302.2:p.Gly221Asp
ENST00000225573.4:c.662G>A	ENSP00000225573.4:p.Gly221Asp
ENST00000434554.6:c.533G>A	ENSP00000399960.2:p.Gly178Asp
ENST00000582171.5:c.*327G>A	ENSP00000463994.1:n.*327G>A
ENST00000584806.1:n.331G>A
ENST00000585320.5:c.*144G>A	ENSP00000462345.1:n.*144G>A
NM_018129.3:c.662G>A	NP_060599.1:p.Gly221Asp
XM_005257500.2:c.422G>A	XP_005257557.1:p.Gly141Asp
XM_011524968.1:c.377G>A	XP_011523270.1:p.Gly126Asp
XM_005257500.3:c.422G>A	XP_005257557.1:p.Gly141Asp
XM_011524968.2:c.377G>A	XP_011523270.1:p.Gly126Asp
XM_017024813.1:c.422G>A	XP_016880302.1:p.Gly141Asp
NM_018129.4:c.662G>A MANE Select	NP_060599.1:p.Gly221Asp