Canonical Allele Identifier: CA500454080

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024079A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946713A>T , CM000679.2:g.47946713A>T	GRCh38
NC_000017.10:g.46024079A>T , CM000679.1:g.46024079A>T	GRCh37
NC_000017.9:g.43379078A>T	NCBI36
NG_008744.1:g.10191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.588A>T	ENSP00000225573.5:p.Gly196=
ENST00000434554.7:c.663A>T	ENSP00000399960.3:p.Gly221=
ENST00000582171.6:c.*382A>T	ENSP00000463994.1:n.*382A>T
ENST00000583599.6:c.477A>T	ENSP00000463919.2:p.Gly159=
ENST00000584061.6:c.648A>T	ENSP00000463972.2:p.Gly216=
ENST00000584806.2:n.386A>T
ENST00000641305.1:n.2216A>T
ENST00000641323.1:c.*736A>T	ENSP00000492965.1:n.*736A>T
ENST00000641427.1:n.717A>T
ENST00000641511.1:c.449A>T
ENST00000641703.1:c.433A>T	ENSP00000493219.1:n.433A>T
ENST00000641709.1:c.*539A>T	ENSP00000493349.1:n.*539A>T
ENST00000641856.1:c.*1225A>T	ENSP00000493224.1:n.*1225A>T
ENST00000642017.2:c.717A>T MANE Select	ENSP00000493302.2:p.Gly239=
ENST00000225573.4:c.717A>T	ENSP00000225573.4:p.Gly239=
ENST00000434554.6:c.588A>T	ENSP00000399960.2:p.Gly196=
ENST00000582171.5:c.*382A>T	ENSP00000463994.1:n.*382A>T
ENST00000584806.1:n.386A>T
ENST00000585320.5:c.*199A>T	ENSP00000462345.1:n.*199A>T
NM_018129.3:c.717A>T	NP_060599.1:p.Gly239=
XM_005257500.2:c.477A>T	XP_005257557.1:p.Gly159=
XM_011524968.1:c.432A>T	XP_011523270.1:p.Gly144=
XM_005257500.3:c.477A>T	XP_005257557.1:p.Gly159=
XM_011524968.2:c.432A>T	XP_011523270.1:p.Gly144=
XM_017024813.1:c.477A>T	XP_016880302.1:p.Gly159=
NM_018129.4:c.717A>T MANE Select	NP_060599.1:p.Gly239=