Canonical Allele Identifier: CA154712

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47943332C>T , CM000679.2:g.47943332C>T	GRCh38
NC_000017.10:g.46020698C>T , CM000679.1:g.46020698C>T	GRCh37
NC_000017.9:g.43375697C>T	NCBI36
NG_008744.1:g.6810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.165C>T	ENSP00000225573.5:p.Ser55=
ENST00000434554.7:c.165C>T	ENSP00000399960.3:p.Ser55=
ENST00000582171.6:c.139-1284C>T	ENSP00000463994.1:n.139-1284C>T
ENST00000583245.6:n.133C>T
ENST00000583599.6:c.-76C>T	ENSP00000463919.2:n.-76C>T
ENST00000584061.6:c.135C>T	ENSP00000463972.2:p.Ser45=
ENST00000641285.1:n.43+1281C>T
ENST00000641305.1:n.240C>T
ENST00000641323.1:c.*184C>T	ENSP00000492965.1:n.*184C>T
ENST00000641427.1:n.165C>T
ENST00000641511.1:c.80C>T
ENST00000641703.1:c.34-1284C>T	ENSP00000493219.1:n.34-1284C>T
ENST00000641709.1:c.139-11C>T	ENSP00000493349.1:n.139-11C>T
ENST00000641856.1:c.139-1284C>T	ENSP00000493224.1:n.139-1284C>T
ENST00000642017.2:c.165C>T MANE Select	ENSP00000493302.2:p.Ser55=
ENST00000225573.4:c.165C>T	ENSP00000225573.4:p.Ser55=
ENST00000434554.6:c.165C>T	ENSP00000399960.2:p.Ser55=
ENST00000582171.5:c.139-1284C>T	ENSP00000463994.1:n.139-1284C>T
ENST00000583245.5:c.*184C>T	ENSP00000463520.1:n.*184C>T
ENST00000583599.5:c.-76C>T	ENSP00000463919.1:n.-76C>T
ENST00000584061.5:c.139-11C>T	ENSP00000463972.1:n.139-11C>T
ENST00000585320.5:c.139-1284C>T	ENSP00000462345.1:n.139-1284C>T
NM_018129.3:c.165C>T	NP_060599.1:p.Ser55=
XM_005257500.2:c.-76C>T	XP_005257557.1:n.-76C>T
XM_011524968.1:c.-22-1284C>T	XP_011523270.1:n.-22-1284C>T
XM_005257500.3:c.-76C>T	XP_005257557.1:n.-76C>T
XM_011524968.2:c.-22-1284C>T	XP_011523270.1:n.-22-1284C>T
XM_017024813.1:c.-76C>T	XP_016880302.1:n.-76C>T
NM_018129.4:c.165C>T MANE Select	NP_060599.1:p.Ser55=