Canonical Allele Identifier: CA400063495

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024118A>C (hg19) ; chr17:g.47946752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946752A>C , CM000679.2:g.47946752A>C	GRCh38
NC_000017.10:g.46024118A>C , CM000679.1:g.46024118A>C	GRCh37
NC_000017.9:g.43379117A>C	NCBI36
NG_008744.1:g.10230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.627A>C	ENSP00000225573.5:p.Glu209Asp
ENST00000434554.7:c.702A>C	ENSP00000399960.3:p.Glu234Asp
ENST00000582171.6:c.*421A>C	ENSP00000463994.1:n.*421A>C
ENST00000584061.6:c.687A>C	ENSP00000463972.2:p.Glu229Asp
ENST00000584806.2:n.425A>C
ENST00000641305.1:n.2255A>C
ENST00000641323.1:c.*775A>C	ENSP00000492965.1:n.*775A>C
ENST00000641427.1:n.756A>C
ENST00000641703.1:c.472A>C	ENSP00000493219.1:n.472A>C
ENST00000641709.1:c.*578A>C	ENSP00000493349.1:n.*578A>C
ENST00000641856.1:c.*1264A>C	ENSP00000493224.1:n.*1264A>C
ENST00000642017.2:c.756A>C MANE Select	ENSP00000493302.2:p.Glu252Asp
ENST00000225573.4:c.756A>C	ENSP00000225573.4:p.Glu252Asp
ENST00000434554.6:c.627A>C	ENSP00000399960.2:p.Glu209Asp
ENST00000582171.5:c.*421A>C	ENSP00000463994.1:n.*421A>C
ENST00000584806.1:n.425A>C
NM_018129.3:c.756A>C	NP_060599.1:p.Glu252Asp
XM_005257500.2:c.516A>C	XP_005257557.1:p.Glu172Asp
XM_011524968.1:c.471A>C	XP_011523270.1:p.Glu157Asp
XM_005257500.3:c.516A>C	XP_005257557.1:p.Glu172Asp
XM_011524968.2:c.471A>C	XP_011523270.1:p.Glu157Asp
XM_017024813.1:c.516A>C	XP_016880302.1:p.Glu172Asp
NM_018129.4:c.756A>C MANE Select	NP_060599.1:p.Glu252Asp