Canonical Allele Identifier: CA400063284

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024100G>C (hg19) ; chr17:g.47946734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946734G>C , CM000679.2:g.47946734G>C	GRCh38
NC_000017.10:g.46024100G>C , CM000679.1:g.46024100G>C	GRCh37
NC_000017.9:g.43379099G>C	NCBI36
NG_008744.1:g.10212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.609G>C	ENSP00000225573.5:p.Met203Ile
ENST00000434554.7:c.684G>C	ENSP00000399960.3:p.Met228Ile
ENST00000582171.6:c.*403G>C	ENSP00000463994.1:n.*403G>C
ENST00000584061.6:c.669G>C	ENSP00000463972.2:p.Met223Ile
ENST00000584806.2:n.407G>C
ENST00000641305.1:n.2237G>C
ENST00000641323.1:c.*757G>C	ENSP00000492965.1:n.*757G>C
ENST00000641427.1:n.738G>C
ENST00000641703.1:c.454G>C	ENSP00000493219.1:n.454G>C
ENST00000641709.1:c.*560G>C	ENSP00000493349.1:n.*560G>C
ENST00000641856.1:c.*1246G>C	ENSP00000493224.1:n.*1246G>C
ENST00000642017.2:c.738G>C MANE Select	ENSP00000493302.2:p.Met246Ile
ENST00000225573.4:c.738G>C	ENSP00000225573.4:p.Met246Ile
ENST00000434554.6:c.609G>C	ENSP00000399960.2:p.Met203Ile
ENST00000582171.5:c.*403G>C	ENSP00000463994.1:n.*403G>C
ENST00000584806.1:n.407G>C
ENST00000585320.5:c.*220G>C	ENSP00000462345.1:n.*220G>C
NM_018129.3:c.738G>C	NP_060599.1:p.Met246Ile
XM_005257500.2:c.498G>C	XP_005257557.1:p.Met166Ile
XM_011524968.1:c.453G>C	XP_011523270.1:p.Met151Ile
XM_005257500.3:c.498G>C	XP_005257557.1:p.Met166Ile
XM_011524968.2:c.453G>C	XP_011523270.1:p.Met151Ile
XM_017024813.1:c.498G>C	XP_016880302.1:p.Met166Ile
NM_018129.4:c.738G>C MANE Select	NP_060599.1:p.Met246Ile