Canonical Allele Identifier: CA8629204

Gene: PNPO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945924C>G , CM000679.2:g.47945924C>G	GRCh38
NC_000017.10:g.46023290C>G , CM000679.1:g.46023290C>G	GRCh37
NC_000017.9:g.43378289C>G	NCBI36
NG_008744.1:g.9402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.417+312C>G	ENSP00000225573.5:n.417+312C>G
ENST00000434554.7:c.427C>G	ENSP00000399960.3:p.Arg143Gly
ENST00000582171.6:c.*146C>G	ENSP00000463994.1:n.*146C>G
ENST00000583245.6:n.453C>G
ENST00000583599.6:c.241C>G	ENSP00000463919.2:p.Arg81Gly
ENST00000584061.6:c.412C>G	ENSP00000463972.2:p.Arg138Gly
ENST00000584806.2:n.215+312C>G
ENST00000641285.1:n.261C>G
ENST00000641305.1:n.1647C>G
ENST00000641323.1:c.*500C>G	ENSP00000492965.1:n.*500C>G
ENST00000641427.1:n.481C>G
ENST00000641511.1:c.279-399C>G
ENST00000641703.1:c.197C>G	ENSP00000493219.1:n.197C>G
ENST00000641709.1:c.*303C>G	ENSP00000493349.1:n.*303C>G
ENST00000641856.1:c.*989C>G	ENSP00000493224.1:n.*989C>G
ENST00000642017.2:c.481C>G MANE Select	ENSP00000493302.2:p.Arg161Gly
ENST00000225573.4:c.481C>G	ENSP00000225573.4:p.Arg161Gly
ENST00000434554.6:c.417+312C>G	ENSP00000399960.2:n.417+312C>G
ENST00000582171.5:c.*146C>G	ENSP00000463994.1:n.*146C>G
ENST00000583245.5:c.*500C>G	ENSP00000463520.1:n.*500C>G
ENST00000583599.5:c.241C>G	ENSP00000463919.1:p.Arg81Gly
ENST00000584806.1:n.215+312C>G
ENST00000585320.5:c.*29-399C>G	ENSP00000462345.1:n.*29-399C>G
NM_018129.3:c.481C>G	NP_060599.1:p.Arg161Gly
XM_005257500.2:c.241C>G	XP_005257557.1:p.Arg81Gly
XM_011524968.1:c.196C>G	XP_011523270.1:p.Arg66Gly
XM_005257500.3:c.241C>G	XP_005257557.1:p.Arg81Gly
XM_011524968.2:c.196C>G	XP_011523270.1:p.Arg66Gly
XM_017024813.1:c.241C>G	XP_016880302.1:p.Arg81Gly
NM_018129.4:c.481C>G MANE Select	NP_060599.1:p.Arg161Gly