Canonical Allele Identifier: CA400058173

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945607C>T , CM000679.2:g.47945607C>T	GRCh38
NC_000017.10:g.46022973C>T , CM000679.1:g.46022973C>T	GRCh37
NC_000017.9:g.43377972C>T	NCBI36
NG_008744.1:g.9085C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.412C>T MANE Select	NP_060599.1:p.Arg138Cys
ENST00000642017.2:c.412C>T MANE Select	ENSP00000493302.2:p.Arg138Cys
NM_018129.3:c.412C>T	NP_060599.1:p.Arg138Cys
ENST00000225573.4:c.412C>T	ENSP00000225573.4:p.Arg138Cys
ENST00000225573.5:c.412C>T	ENSP00000225573.5:p.Arg138Cys
ENST00000434554.6:c.412C>T	ENSP00000399960.2:p.Arg138Cys
ENST00000434554.7:c.364-254C>T	ENSP00000399960.3:n.364-254C>T
ENST00000582171.5:c.*77C>T	ENSP00000463994.1:n.*77C>T
ENST00000582171.6:c.*77C>T	ENSP00000463994.1:n.*77C>T
ENST00000583245.5:c.*431C>T	ENSP00000463520.1:n.*431C>T
ENST00000583245.6:n.380C>T
ENST00000583599.5:c.172C>T	ENSP00000463919.1:p.Arg58Cys
ENST00000583599.6:c.172C>T	ENSP00000463919.2:p.Arg58Cys
ENST00000584061.5:c.*234C>T	ENSP00000463972.1:n.*234C>T
ENST00000584061.6:c.343C>T	ENSP00000463972.2:p.Arg115Cys
ENST00000584806.1:n.210C>T
ENST00000584806.2:n.210C>T
ENST00000585320.5:c.*29-716C>T	ENSP00000462345.1:n.*29-716C>T
ENST00000641285.1:n.192C>T
ENST00000641305.1:n.1330C>T
ENST00000641323.1:c.*431C>T	ENSP00000492965.1:n.*431C>T
ENST00000641427.1:n.412C>T
ENST00000641511.1:c.279-716C>T
ENST00000641703.1:c.134-254C>T	ENSP00000493219.1:n.134-254C>T
ENST00000641709.1:c.*234C>T	ENSP00000493349.1:n.*234C>T
ENST00000641856.1:c.*920C>T	ENSP00000493224.1:n.*920C>T
XM_005257500.2:c.172C>T	XP_005257557.1:p.Arg58Cys
XM_005257500.3:c.172C>T	XP_005257557.1:p.Arg58Cys
XM_011524968.1:c.127C>T	XP_011523270.1:p.Arg43Cys
XM_011524968.2:c.127C>T	XP_011523270.1:p.Arg43Cys
XM_017024813.1:c.172C>T	XP_016880302.1:p.Arg58Cys