Canonical Allele Identifier: CA8629217

Gene: PNPO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945985G>T , CM000679.2:g.47945985G>T	GRCh38
NC_000017.10:g.46023351G>T , CM000679.1:g.46023351G>T	GRCh37
NC_000017.9:g.43378350G>T	NCBI36
NG_008744.1:g.9463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.418-338G>T	ENSP00000225573.5:n.418-338G>T
ENST00000434554.7:c.488G>T	ENSP00000399960.3:p.Arg163Leu
ENST00000582171.6:c.*207G>T	ENSP00000463994.1:n.*207G>T
ENST00000583245.6:n.514G>T
ENST00000583599.6:c.302G>T	ENSP00000463919.2:p.Arg101Leu
ENST00000584061.6:c.473G>T	ENSP00000463972.2:p.Arg158Leu
ENST00000584806.2:n.216-338G>T
ENST00000641285.1:n.322G>T
ENST00000641305.1:n.1708G>T
ENST00000641323.1:c.*561G>T	ENSP00000492965.1:n.*561G>T
ENST00000641427.1:n.542G>T
ENST00000641511.1:c.279-338G>T
ENST00000641703.1:c.258G>T	ENSP00000493219.1:n.258G>T
ENST00000641709.1:c.*364G>T	ENSP00000493349.1:n.*364G>T
ENST00000641856.1:c.*1050G>T	ENSP00000493224.1:n.*1050G>T
ENST00000642017.2:c.542G>T MANE Select	ENSP00000493302.2:p.Arg181Leu
ENST00000225573.4:c.542G>T	ENSP00000225573.4:p.Arg181Leu
ENST00000434554.6:c.418-338G>T	ENSP00000399960.2:n.418-338G>T
ENST00000582171.5:c.*207G>T	ENSP00000463994.1:n.*207G>T
ENST00000583245.5:c.*561G>T	ENSP00000463520.1:n.*561G>T
ENST00000583599.5:c.302G>T	ENSP00000463919.1:p.Arg101Leu
ENST00000584806.1:n.216-338G>T
ENST00000585320.5:c.*29-338G>T	ENSP00000462345.1:n.*29-338G>T
NM_018129.3:c.542G>T	NP_060599.1:p.Arg181Leu
XM_005257500.2:c.302G>T	XP_005257557.1:p.Arg101Leu
XM_011524968.1:c.257G>T	XP_011523270.1:p.Arg86Leu
XM_005257500.3:c.302G>T	XP_005257557.1:p.Arg101Leu
XM_011524968.2:c.257G>T	XP_011523270.1:p.Arg86Leu
XM_017024813.1:c.302G>T	XP_016880302.1:p.Arg101Leu
NM_018129.4:c.542G>T MANE Select	NP_060599.1:p.Arg181Leu