Canonical Allele Identifier: CA400063700

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024135G>C (hg19) ; chr17:g.47946769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946769G>C , CM000679.2:g.47946769G>C	GRCh38
NC_000017.10:g.46024135G>C , CM000679.1:g.46024135G>C	GRCh37
NC_000017.9:g.43379134G>C	NCBI36
NG_008744.1:g.10247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.644G>C	ENSP00000225573.5:p.Arg215Thr
ENST00000434554.7:c.719G>C	ENSP00000399960.3:p.Arg240Thr
ENST00000582171.6:c.*438G>C	ENSP00000463994.1:n.*438G>C
ENST00000584061.6:c.704G>C	ENSP00000463972.2:p.Arg235Thr
ENST00000584806.2:n.442G>C
ENST00000641305.1:n.2272G>C
ENST00000641323.1:c.*792G>C	ENSP00000492965.1:n.*792G>C
ENST00000641427.1:n.773G>C
ENST00000641703.1:c.489G>C	ENSP00000493219.1:n.489G>C
ENST00000641709.1:c.*595G>C	ENSP00000493349.1:n.*595G>C
ENST00000641856.1:c.*1281G>C	ENSP00000493224.1:n.*1281G>C
ENST00000642017.2:c.773G>C MANE Select	ENSP00000493302.2:p.Arg258Thr
ENST00000225573.4:c.773G>C	ENSP00000225573.4:p.Arg258Thr
ENST00000434554.6:c.644G>C	ENSP00000399960.2:p.Arg215Thr
ENST00000582171.5:c.*438G>C	ENSP00000463994.1:n.*438G>C
ENST00000584806.1:n.442G>C
NM_018129.3:c.773G>C	NP_060599.1:p.Arg258Thr
XM_005257500.2:c.533G>C	XP_005257557.1:p.Arg178Thr
XM_011524968.1:c.488G>C	XP_011523270.1:p.Arg163Thr
XM_005257500.3:c.533G>C	XP_005257557.1:p.Arg178Thr
XM_011524968.2:c.488G>C	XP_011523270.1:p.Arg163Thr
XM_017024813.1:c.533G>C	XP_016880302.1:p.Arg178Thr
NM_018129.4:c.773G>C MANE Select	NP_060599.1:p.Arg258Thr