Canonical Allele Identifier: CA400062243

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024011G>T (hg19) ; chr17:g.47946645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946645G>T , CM000679.2:g.47946645G>T	GRCh38
NC_000017.10:g.46024011G>T , CM000679.1:g.46024011G>T	GRCh37
NC_000017.9:g.43379010G>T	NCBI36
NG_008744.1:g.10123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.520G>T	ENSP00000225573.5:p.Glu174Ter
ENST00000434554.7:c.595G>T	ENSP00000399960.3:p.Glu199Ter
ENST00000582171.6:c.*314G>T	ENSP00000463994.1:n.*314G>T
ENST00000583599.6:c.409G>T	ENSP00000463919.2:p.Glu137Ter
ENST00000584061.6:c.580G>T	ENSP00000463972.2:p.Glu194Ter
ENST00000584806.2:n.318G>T
ENST00000641285.1:n.429G>T
ENST00000641305.1:n.2148G>T
ENST00000641323.1:c.*668G>T	ENSP00000492965.1:n.*668G>T
ENST00000641427.1:n.649G>T
ENST00000641511.1:c.381G>T
ENST00000641703.1:c.365G>T	ENSP00000493219.1:n.365G>T
ENST00000641709.1:c.*471G>T	ENSP00000493349.1:n.*471G>T
ENST00000641856.1:c.*1157G>T	ENSP00000493224.1:n.*1157G>T
ENST00000642017.2:c.649G>T MANE Select	ENSP00000493302.2:p.Glu217Ter
ENST00000225573.4:c.649G>T	ENSP00000225573.4:p.Glu217Ter
ENST00000434554.6:c.520G>T	ENSP00000399960.2:p.Glu174Ter
ENST00000582171.5:c.*314G>T	ENSP00000463994.1:n.*314G>T
ENST00000584806.1:n.318G>T
ENST00000585320.5:c.*131G>T	ENSP00000462345.1:n.*131G>T
NM_018129.3:c.649G>T	NP_060599.1:p.Glu217Ter
XM_005257500.2:c.409G>T	XP_005257557.1:p.Glu137Ter
XM_011524968.1:c.364G>T	XP_011523270.1:p.Glu122Ter
XM_005257500.3:c.409G>T	XP_005257557.1:p.Glu137Ter
XM_011524968.2:c.364G>T	XP_011523270.1:p.Glu122Ter
XM_017024813.1:c.409G>T	XP_016880302.1:p.Glu137Ter
NM_018129.4:c.649G>T MANE Select	NP_060599.1:p.Glu217Ter