Canonical Allele Identifier: CA400056949

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47944635C>T , CM000679.2:g.47944635C>T	GRCh38
NC_000017.10:g.46022001C>T , CM000679.1:g.46022001C>T	GRCh37
NC_000017.9:g.43377000C>T	NCBI36
NG_008744.1:g.8113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.283C>T MANE Select	NP_060599.1:p.Arg95Cys
ENST00000642017.2:c.283C>T MANE Select	ENSP00000493302.2:p.Arg95Cys
NM_018129.3:c.283C>T	NP_060599.1:p.Arg95Cys
ENST00000225573.4:c.283C>T	ENSP00000225573.4:p.Arg95Cys
ENST00000225573.5:c.283C>T	ENSP00000225573.5:p.Arg95Cys
ENST00000434554.6:c.283C>T	ENSP00000399960.2:p.Arg95Cys
ENST00000434554.7:c.283C>T	ENSP00000399960.3:p.Arg95Cys
ENST00000582171.5:c.158C>T	ENSP00000463994.1:p.Ser53Leu
ENST00000582171.6:c.158C>T	ENSP00000463994.1:p.Ser53Leu
ENST00000583245.5:c.*302C>T	ENSP00000463520.1:n.*302C>T
ENST00000583245.6:n.251C>T
ENST00000583599.5:c.43C>T	ENSP00000463919.1:p.Arg15Cys
ENST00000583599.6:c.43C>T	ENSP00000463919.2:p.Arg15Cys
ENST00000584061.5:c.*105C>T	ENSP00000463972.1:n.*105C>T
ENST00000584061.6:c.253C>T	ENSP00000463972.2:p.Arg85Cys
ENST00000585320.5:c.158C>T	ENSP00000462345.1:p.Ser53Leu
ENST00000641285.1:n.63C>T
ENST00000641305.1:n.358C>T
ENST00000641323.1:c.*302C>T	ENSP00000492965.1:n.*302C>T
ENST00000641427.1:n.283C>T
ENST00000641511.1:c.198C>T
ENST00000641703.1:c.53C>T	ENSP00000493219.1:p.Ser18Leu
ENST00000641709.1:c.*105C>T	ENSP00000493349.1:n.*105C>T
ENST00000641856.1:c.158C>T	ENSP00000493224.1:p.Ser53Leu
XM_005257500.2:c.43C>T	XP_005257557.1:p.Arg15Cys
XM_005257500.3:c.43C>T	XP_005257557.1:p.Arg15Cys
XM_011524968.1:c.-3C>T	XP_011523270.1:n.-3C>T
XM_011524968.2:c.-3C>T	XP_011523270.1:n.-3C>T
XM_017024813.1:c.43C>T	XP_016880302.1:p.Arg15Cys