Canonical Allele Identifier: CA400062365

Gene: PNPO

Linked Data

• ClinVar Variation Id: 2008584
• ClinVar RCV Id: RCV002828726
• MyVariant Identifiers: chr17:g.46024021A>G (hg19) ; chr17:g.47946655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946655A>G , CM000679.2:g.47946655A>G	GRCh38
NC_000017.10:g.46024021A>G , CM000679.1:g.46024021A>G	GRCh37
NC_000017.9:g.43379020A>G	NCBI36
NG_008744.1:g.10133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.530A>G	ENSP00000225573.5:p.Gln177Arg
ENST00000434554.7:c.605A>G	ENSP00000399960.3:p.Gln202Arg
ENST00000582171.6:c.*324A>G	ENSP00000463994.1:n.*324A>G
ENST00000583599.6:c.419A>G	ENSP00000463919.2:p.Gln140Arg
ENST00000584061.6:c.590A>G	ENSP00000463972.2:p.Gln197Arg
ENST00000584806.2:n.328A>G
ENST00000641285.1:n.439A>G
ENST00000641305.1:n.2158A>G
ENST00000641323.1:c.*678A>G	ENSP00000492965.1:n.*678A>G
ENST00000641427.1:n.659A>G
ENST00000641511.1:c.391A>G
ENST00000641703.1:c.375A>G	ENSP00000493219.1:n.375A>G
ENST00000641709.1:c.*481A>G	ENSP00000493349.1:n.*481A>G
ENST00000641856.1:c.*1167A>G	ENSP00000493224.1:n.*1167A>G
ENST00000642017.2:c.659A>G MANE Select	ENSP00000493302.2:p.Gln220Arg
ENST00000225573.4:c.659A>G	ENSP00000225573.4:p.Gln220Arg
ENST00000434554.6:c.530A>G	ENSP00000399960.2:p.Gln177Arg
ENST00000582171.5:c.*324A>G	ENSP00000463994.1:n.*324A>G
ENST00000584806.1:n.328A>G
ENST00000585320.5:c.*141A>G	ENSP00000462345.1:n.*141A>G
NM_018129.3:c.659A>G	NP_060599.1:p.Gln220Arg
XM_005257500.2:c.419A>G	XP_005257557.1:p.Gln140Arg
XM_011524968.1:c.374A>G	XP_011523270.1:p.Gln125Arg
XM_005257500.3:c.419A>G	XP_005257557.1:p.Gln140Arg
XM_011524968.2:c.374A>G	XP_011523270.1:p.Gln125Arg
XM_017024813.1:c.419A>G	XP_016880302.1:p.Gln140Arg
NM_018129.4:c.659A>G MANE Select	NP_060599.1:p.Gln220Arg