Canonical Allele Identifier: CA500453941

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024037C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946671C>T , CM000679.2:g.47946671C>T	GRCh38
NC_000017.10:g.46024037C>T , CM000679.1:g.46024037C>T	GRCh37
NC_000017.9:g.43379036C>T	NCBI36
NG_008744.1:g.10149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.546C>T	ENSP00000225573.5:p.Arg182=
ENST00000434554.7:c.621C>T	ENSP00000399960.3:p.Arg207=
ENST00000582171.6:c.*340C>T	ENSP00000463994.1:n.*340C>T
ENST00000583599.6:c.435C>T	ENSP00000463919.2:p.Arg145=
ENST00000584061.6:c.606C>T	ENSP00000463972.2:p.Arg202=
ENST00000584806.2:n.344C>T
ENST00000641285.1:n.455C>T
ENST00000641305.1:n.2174C>T
ENST00000641323.1:c.*694C>T	ENSP00000492965.1:n.*694C>T
ENST00000641427.1:n.675C>T
ENST00000641511.1:c.407C>T
ENST00000641703.1:c.391C>T	ENSP00000493219.1:n.391C>T
ENST00000641709.1:c.*497C>T	ENSP00000493349.1:n.*497C>T
ENST00000641856.1:c.*1183C>T	ENSP00000493224.1:n.*1183C>T
ENST00000642017.2:c.675C>T MANE Select	ENSP00000493302.2:p.Arg225=
ENST00000225573.4:c.675C>T	ENSP00000225573.4:p.Arg225=
ENST00000434554.6:c.546C>T	ENSP00000399960.2:p.Arg182=
ENST00000582171.5:c.*340C>T	ENSP00000463994.1:n.*340C>T
ENST00000584806.1:n.344C>T
ENST00000585320.5:c.*157C>T	ENSP00000462345.1:n.*157C>T
NM_018129.3:c.675C>T	NP_060599.1:p.Arg225=
XM_005257500.2:c.435C>T	XP_005257557.1:p.Arg145=
XM_011524968.1:c.390C>T	XP_011523270.1:p.Arg130=
XM_005257500.3:c.435C>T	XP_005257557.1:p.Arg145=
XM_011524968.2:c.390C>T	XP_011523270.1:p.Arg130=
XM_017024813.1:c.435C>T	XP_016880302.1:p.Arg145=
NM_018129.4:c.675C>T MANE Select	NP_060599.1:p.Arg225=