Canonical Allele Identifier: CA500453920

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024031C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946665C>T , CM000679.2:g.47946665C>T	GRCh38
NC_000017.10:g.46024031C>T , CM000679.1:g.46024031C>T	GRCh37
NC_000017.9:g.43379030C>T	NCBI36
NG_008744.1:g.10143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.540C>T	ENSP00000225573.5:p.Thr180=
ENST00000434554.7:c.615C>T	ENSP00000399960.3:p.Thr205=
ENST00000582171.6:c.*334C>T	ENSP00000463994.1:n.*334C>T
ENST00000583599.6:c.429C>T	ENSP00000463919.2:p.Thr143=
ENST00000584061.6:c.600C>T	ENSP00000463972.2:p.Thr200=
ENST00000584806.2:n.338C>T
ENST00000641285.1:n.449C>T
ENST00000641305.1:n.2168C>T
ENST00000641323.1:c.*688C>T	ENSP00000492965.1:n.*688C>T
ENST00000641427.1:n.669C>T
ENST00000641511.1:c.401C>T
ENST00000641703.1:c.385C>T	ENSP00000493219.1:n.385C>T
ENST00000641709.1:c.*491C>T	ENSP00000493349.1:n.*491C>T
ENST00000641856.1:c.*1177C>T	ENSP00000493224.1:n.*1177C>T
ENST00000642017.2:c.669C>T MANE Select	ENSP00000493302.2:p.Thr223=
ENST00000225573.4:c.669C>T	ENSP00000225573.4:p.Thr223=
ENST00000434554.6:c.540C>T	ENSP00000399960.2:p.Thr180=
ENST00000582171.5:c.*334C>T	ENSP00000463994.1:n.*334C>T
ENST00000584806.1:n.338C>T
ENST00000585320.5:c.*151C>T	ENSP00000462345.1:n.*151C>T
NM_018129.3:c.669C>T	NP_060599.1:p.Thr223=
XM_005257500.2:c.429C>T	XP_005257557.1:p.Thr143=
XM_011524968.1:c.384C>T	XP_011523270.1:p.Thr128=
XM_005257500.3:c.429C>T	XP_005257557.1:p.Thr143=
XM_011524968.2:c.384C>T	XP_011523270.1:p.Thr128=
XM_017024813.1:c.429C>T	XP_016880302.1:p.Thr143=
NM_018129.4:c.669C>T MANE Select	NP_060599.1:p.Thr223=