Canonical Allele Identifier: CA8629191

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945864C>T , CM000679.2:g.47945864C>T	GRCh38
NC_000017.10:g.46023230C>T , CM000679.1:g.46023230C>T	GRCh37
NC_000017.9:g.43378229C>T	NCBI36
NG_008744.1:g.9342C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.421C>T MANE Select	NP_060599.1:p.Arg141Cys
ENST00000642017.2:c.421C>T MANE Select	ENSP00000493302.2:p.Arg141Cys
NM_018129.3:c.421C>T	NP_060599.1:p.Arg141Cys
ENST00000225573.4:c.421C>T	ENSP00000225573.4:p.Arg141Cys
ENST00000225573.5:c.417+252C>T	ENSP00000225573.5:n.417+252C>T
ENST00000434554.6:c.417+252C>T	ENSP00000399960.2:n.417+252C>T
ENST00000434554.7:c.367C>T	ENSP00000399960.3:p.Arg123Cys
ENST00000582171.5:c.*86C>T	ENSP00000463994.1:n.*86C>T
ENST00000582171.6:c.*86C>T	ENSP00000463994.1:n.*86C>T
ENST00000583245.5:c.*440C>T	ENSP00000463520.1:n.*440C>T
ENST00000583245.6:n.393C>T
ENST00000583599.5:c.181C>T	ENSP00000463919.1:p.Arg61Cys
ENST00000583599.6:c.181C>T	ENSP00000463919.2:p.Arg61Cys
ENST00000584061.5:c.*243C>T	ENSP00000463972.1:n.*243C>T
ENST00000584061.6:c.352C>T	ENSP00000463972.2:p.Arg118Cys
ENST00000584806.1:n.215+252C>T
ENST00000584806.2:n.215+252C>T
ENST00000585320.5:c.*29-459C>T	ENSP00000462345.1:n.*29-459C>T
ENST00000641285.1:n.201C>T
ENST00000641305.1:n.1587C>T
ENST00000641323.1:c.*440C>T	ENSP00000492965.1:n.*440C>T
ENST00000641427.1:n.421C>T
ENST00000641511.1:c.279-459C>T
ENST00000641703.1:c.137C>T	ENSP00000493219.1:n.137C>T
ENST00000641709.1:c.*243C>T	ENSP00000493349.1:n.*243C>T
ENST00000641856.1:c.*929C>T	ENSP00000493224.1:n.*929C>T
XM_005257500.2:c.181C>T	XP_005257557.1:p.Arg61Cys
XM_005257500.3:c.181C>T	XP_005257557.1:p.Arg61Cys
XM_011524968.1:c.136C>T	XP_011523270.1:p.Arg46Cys
XM_011524968.2:c.136C>T	XP_011523270.1:p.Arg46Cys
XM_017024813.1:c.181C>T	XP_016880302.1:p.Arg61Cys