Canonical Allele Identifier: CA316582

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206459
• ClinVar RCV Id: RCV000188507 ; RCV000537518
• dbSNP Id: rs138727329
• ExAC: 17:46023353 G / A
• gnomAD v2: 17-46023353-G-A
• gnomAD v3: 17-47945987-G-A
• gnomAD v4: 17-47945987-G-A
• MyVariant Identifiers: chr17:g.46023353G>A (hg19) ; chr17:g.47945987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945987G>A , CM000679.2:g.47945987G>A	GRCh38
NC_000017.10:g.46023353G>A , CM000679.1:g.46023353G>A	GRCh37
NC_000017.9:g.43378352G>A	NCBI36
NG_008744.1:g.9465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.418-336G>A	ENSP00000225573.5:n.418-336G>A
ENST00000434554.7:c.490G>A	ENSP00000399960.3:p.Glu164Lys
ENST00000582171.6:c.*209G>A	ENSP00000463994.1:n.*209G>A
ENST00000583245.6:n.516G>A
ENST00000583599.6:c.304G>A	ENSP00000463919.2:p.Glu102Lys
ENST00000584061.6:c.475G>A	ENSP00000463972.2:p.Glu159Lys
ENST00000584806.2:n.216-336G>A
ENST00000641285.1:n.324G>A
ENST00000641305.1:n.1710G>A
ENST00000641323.1:c.*563G>A	ENSP00000492965.1:n.*563G>A
ENST00000641427.1:n.544G>A
ENST00000641511.1:c.279-336G>A
ENST00000641703.1:c.260G>A	ENSP00000493219.1:n.260G>A
ENST00000641709.1:c.*366G>A	ENSP00000493349.1:n.*366G>A
ENST00000641856.1:c.*1052G>A	ENSP00000493224.1:n.*1052G>A
ENST00000642017.2:c.544G>A MANE Select	ENSP00000493302.2:p.Glu182Lys
ENST00000225573.4:c.544G>A	ENSP00000225573.4:p.Glu182Lys
ENST00000434554.6:c.418-336G>A	ENSP00000399960.2:n.418-336G>A
ENST00000582171.5:c.*209G>A	ENSP00000463994.1:n.*209G>A
ENST00000583245.5:c.*563G>A	ENSP00000463520.1:n.*563G>A
ENST00000583599.5:c.304G>A	ENSP00000463919.1:p.Glu102Lys
ENST00000584806.1:n.216-336G>A
ENST00000585320.5:c.*29-336G>A	ENSP00000462345.1:n.*29-336G>A
NM_018129.3:c.544G>A	NP_060599.1:p.Glu182Lys
XM_005257500.2:c.304G>A	XP_005257557.1:p.Glu102Lys
XM_011524968.1:c.259G>A	XP_011523270.1:p.Glu87Lys
XM_005257500.3:c.304G>A	XP_005257557.1:p.Glu102Lys
XM_011524968.2:c.259G>A	XP_011523270.1:p.Glu87Lys
XM_017024813.1:c.304G>A	XP_016880302.1:p.Glu102Lys
NM_018129.4:c.544G>A MANE Select	NP_060599.1:p.Glu182Lys