Canonical Allele Identifier: CA400062494

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024033A>T (hg19) ; chr17:g.47946667A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946667A>T , CM000679.2:g.47946667A>T	GRCh38
NC_000017.10:g.46024033A>T , CM000679.1:g.46024033A>T	GRCh37
NC_000017.9:g.43379032A>T	NCBI36
NG_008744.1:g.10145A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.542A>T	ENSP00000225573.5:p.Asn181Ile
ENST00000434554.7:c.617A>T	ENSP00000399960.3:p.Asn206Ile
ENST00000582171.6:c.*336A>T	ENSP00000463994.1:n.*336A>T
ENST00000583599.6:c.431A>T	ENSP00000463919.2:p.Asn144Ile
ENST00000584061.6:c.602A>T	ENSP00000463972.2:p.Asn201Ile
ENST00000584806.2:n.340A>T
ENST00000641285.1:n.451A>T
ENST00000641305.1:n.2170A>T
ENST00000641323.1:c.*690A>T	ENSP00000492965.1:n.*690A>T
ENST00000641427.1:n.671A>T
ENST00000641511.1:c.403A>T
ENST00000641703.1:c.387A>T	ENSP00000493219.1:n.387A>T
ENST00000641709.1:c.*493A>T	ENSP00000493349.1:n.*493A>T
ENST00000641856.1:c.*1179A>T	ENSP00000493224.1:n.*1179A>T
ENST00000642017.2:c.671A>T MANE Select	ENSP00000493302.2:p.Asn224Ile
ENST00000225573.4:c.671A>T	ENSP00000225573.4:p.Asn224Ile
ENST00000434554.6:c.542A>T	ENSP00000399960.2:p.Asn181Ile
ENST00000582171.5:c.*336A>T	ENSP00000463994.1:n.*336A>T
ENST00000584806.1:n.340A>T
ENST00000585320.5:c.*153A>T	ENSP00000462345.1:n.*153A>T
NM_018129.3:c.671A>T	NP_060599.1:p.Asn224Ile
XM_005257500.2:c.431A>T	XP_005257557.1:p.Asn144Ile
XM_011524968.1:c.386A>T	XP_011523270.1:p.Asn129Ile
XM_005257500.3:c.431A>T	XP_005257557.1:p.Asn144Ile
XM_011524968.2:c.386A>T	XP_011523270.1:p.Asn129Ile
XM_017024813.1:c.431A>T	XP_016880302.1:p.Asn144Ile
NM_018129.4:c.671A>T MANE Select	NP_060599.1:p.Asn224Ile