Canonical Allele Identifier: CA2581312934

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946588A>C , CM000679.2:g.47946588A>C	GRCh38
NC_000017.10:g.46023954A>C , CM000679.1:g.46023954A>C	GRCh37
NC_000017.9:g.43378953A>C	NCBI36
NG_008744.1:g.10066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.489-26A>C	ENSP00000225573.5:n.489-26A>C
ENST00000434554.7:c.564-26A>C	ENSP00000399960.3:n.564-26A>C
ENST00000582171.6:c.*283-26A>C	ENSP00000463994.1:n.*283-26A>C
ENST00000583599.6:c.378-26A>C	ENSP00000463919.2:n.378-26A>C
ENST00000584061.6:c.549-26A>C	ENSP00000463972.2:n.549-26A>C
ENST00000584806.2:n.287-26A>C
ENST00000641285.1:n.398-26A>C
ENST00000641305.1:n.2117-26A>C
ENST00000641323.1:c.*637-26A>C	ENSP00000492965.1:n.*637-26A>C
ENST00000641427.1:n.618-26A>C
ENST00000641511.1:c.350-26A>C
ENST00000641703.1:c.334-26A>C	ENSP00000493219.1:n.334-26A>C
ENST00000641709.1:c.*440-26A>C	ENSP00000493349.1:n.*440-26A>C
ENST00000641856.1:c.*1126-26A>C	ENSP00000493224.1:n.*1126-26A>C
ENST00000642017.2:c.618-26A>C MANE Select	ENSP00000493302.2:n.618-26A>C
ENST00000225573.4:c.618-26A>C	ENSP00000225573.4:n.618-26A>C
ENST00000434554.6:c.489-26A>C	ENSP00000399960.2:n.489-26A>C
ENST00000582171.5:c.*283-26A>C	ENSP00000463994.1:n.*283-26A>C
ENST00000584806.1:n.287-26A>C
ENST00000585320.5:c.*100-26A>C	ENSP00000462345.1:n.*100-26A>C
NM_018129.3:c.618-26A>C	NP_060599.1:n.618-26A>C
XM_005257500.2:c.378-26A>C	XP_005257557.1:n.378-26A>C
XM_011524968.1:c.333-26A>C	XP_011523270.1:n.333-26A>C
XM_005257500.3:c.378-26A>C	XP_005257557.1:n.378-26A>C
XM_011524968.2:c.333-26A>C	XP_011523270.1:n.333-26A>C
XM_017024813.1:c.378-26A>C	XP_016880302.1:n.378-26A>C
NM_018129.4:c.618-26A>C MANE Select	NP_060599.1:n.618-26A>C