Canonical Allele Identifier: CA292813

Gene: PNPO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945943T>C , CM000679.2:g.47945943T>C	GRCh38
NC_000017.10:g.46023309T>C , CM000679.1:g.46023309T>C	GRCh37
NC_000017.9:g.43378308T>C	NCBI36
NG_008744.1:g.9421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.417+331T>C	ENSP00000225573.5:n.417+331T>C
ENST00000434554.7:c.446T>C	ENSP00000399960.3:p.Ile149Thr
ENST00000582171.6:c.*165T>C	ENSP00000463994.1:n.*165T>C
ENST00000583245.6:n.472T>C
ENST00000583599.6:c.260T>C	ENSP00000463919.2:p.Ile87Thr
ENST00000584061.6:c.431T>C	ENSP00000463972.2:p.Ile144Thr
ENST00000584806.2:n.215+331T>C
ENST00000641285.1:n.280T>C
ENST00000641305.1:n.1666T>C
ENST00000641323.1:c.*519T>C	ENSP00000492965.1:n.*519T>C
ENST00000641427.1:n.500T>C
ENST00000641511.1:c.279-380T>C
ENST00000641703.1:c.216T>C	ENSP00000493219.1:n.216T>C
ENST00000641709.1:c.*322T>C	ENSP00000493349.1:n.*322T>C
ENST00000641856.1:c.*1008T>C	ENSP00000493224.1:n.*1008T>C
ENST00000642017.2:c.500T>C MANE Select	ENSP00000493302.2:p.Ile167Thr
ENST00000225573.4:c.500T>C	ENSP00000225573.4:p.Ile167Thr
ENST00000434554.6:c.417+331T>C	ENSP00000399960.2:n.417+331T>C
ENST00000582171.5:c.*165T>C	ENSP00000463994.1:n.*165T>C
ENST00000583245.5:c.*519T>C	ENSP00000463520.1:n.*519T>C
ENST00000583599.5:c.260T>C	ENSP00000463919.1:p.Ile87Thr
ENST00000584806.1:n.215+331T>C
ENST00000585320.5:c.*29-380T>C	ENSP00000462345.1:n.*29-380T>C
NM_018129.3:c.500T>C	NP_060599.1:p.Ile167Thr
XM_005257500.2:c.260T>C	XP_005257557.1:p.Ile87Thr
XM_011524968.1:c.215T>C	XP_011523270.1:p.Ile72Thr
XM_005257500.3:c.260T>C	XP_005257557.1:p.Ile87Thr
XM_011524968.2:c.215T>C	XP_011523270.1:p.Ile72Thr
XM_017024813.1:c.260T>C	XP_016880302.1:p.Ile87Thr
NM_018129.4:c.500T>C MANE Select	NP_060599.1:p.Ile167Thr