Canonical Allele Identifier: CA400058427

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945860G>C , CM000679.2:g.47945860G>C	GRCh38
NC_000017.10:g.46023226G>C , CM000679.1:g.46023226G>C	GRCh37
NC_000017.9:g.43378225G>C	NCBI36
NG_008744.1:g.9338G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.418-1G>C MANE Select	NP_060599.1:n.418-1G>C
ENST00000642017.2:c.418-1G>C MANE Select	ENSP00000493302.2:n.418-1G>C
NM_018129.3:c.418-1G>C	NP_060599.1:n.418-1G>C
ENST00000225573.4:c.418-1G>C	ENSP00000225573.4:n.418-1G>C
ENST00000225573.5:c.417+248G>C	ENSP00000225573.5:n.417+248G>C
ENST00000434554.6:c.417+248G>C	ENSP00000399960.2:n.417+248G>C
ENST00000434554.7:c.364-1G>C	ENSP00000399960.3:n.364-1G>C
ENST00000582171.5:c.*83-1G>C	ENSP00000463994.1:n.*83-1G>C
ENST00000582171.6:c.*83-1G>C	ENSP00000463994.1:n.*83-1G>C
ENST00000583245.5:c.*437-1G>C	ENSP00000463520.1:n.*437-1G>C
ENST00000583245.6:n.390-1G>C
ENST00000583599.5:c.178-1G>C	ENSP00000463919.1:n.178-1G>C
ENST00000583599.6:c.178-1G>C	ENSP00000463919.2:n.178-1G>C
ENST00000584061.5:c.*240-1G>C	ENSP00000463972.1:n.*240-1G>C
ENST00000584061.6:c.349-1G>C	ENSP00000463972.2:n.349-1G>C
ENST00000584806.1:n.215+248G>C
ENST00000584806.2:n.215+248G>C
ENST00000585320.5:c.*29-463G>C	ENSP00000462345.1:n.*29-463G>C
ENST00000641285.1:n.198-1G>C
ENST00000641305.1:n.1583G>C
ENST00000641323.1:c.*437-1G>C	ENSP00000492965.1:n.*437-1G>C
ENST00000641427.1:n.418-1G>C
ENST00000641511.1:c.279-463G>C
ENST00000641703.1:c.134-1G>C	ENSP00000493219.1:n.134-1G>C
ENST00000641709.1:c.*240-1G>C	ENSP00000493349.1:n.*240-1G>C
ENST00000641856.1:c.*926-1G>C	ENSP00000493224.1:n.*926-1G>C
XM_005257500.2:c.178-1G>C	XP_005257557.1:n.178-1G>C
XM_005257500.3:c.178-1G>C	XP_005257557.1:n.178-1G>C
XM_011524968.1:c.133-1G>C	XP_011523270.1:n.133-1G>C
XM_011524968.2:c.133-1G>C	XP_011523270.1:n.133-1G>C
XM_017024813.1:c.178-1G>C	XP_016880302.1:n.178-1G>C