Canonical Allele Identifier: CA400062269

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024012A>T (hg19) ; chr17:g.47946646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946646A>T , CM000679.2:g.47946646A>T	GRCh38
NC_000017.10:g.46024012A>T , CM000679.1:g.46024012A>T	GRCh37
NC_000017.9:g.43379011A>T	NCBI36
NG_008744.1:g.10124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.521A>T	ENSP00000225573.5:p.Glu174Val
ENST00000434554.7:c.596A>T	ENSP00000399960.3:p.Glu199Val
ENST00000582171.6:c.*315A>T	ENSP00000463994.1:n.*315A>T
ENST00000583599.6:c.410A>T	ENSP00000463919.2:p.Glu137Val
ENST00000584061.6:c.581A>T	ENSP00000463972.2:p.Glu194Val
ENST00000584806.2:n.319A>T
ENST00000641285.1:n.430A>T
ENST00000641305.1:n.2149A>T
ENST00000641323.1:c.*669A>T	ENSP00000492965.1:n.*669A>T
ENST00000641427.1:n.650A>T
ENST00000641511.1:c.382A>T
ENST00000641703.1:c.366A>T	ENSP00000493219.1:n.366A>T
ENST00000641709.1:c.*472A>T	ENSP00000493349.1:n.*472A>T
ENST00000641856.1:c.*1158A>T	ENSP00000493224.1:n.*1158A>T
ENST00000642017.2:c.650A>T MANE Select	ENSP00000493302.2:p.Glu217Val
ENST00000225573.4:c.650A>T	ENSP00000225573.4:p.Glu217Val
ENST00000434554.6:c.521A>T	ENSP00000399960.2:p.Glu174Val
ENST00000582171.5:c.*315A>T	ENSP00000463994.1:n.*315A>T
ENST00000584806.1:n.319A>T
ENST00000585320.5:c.*132A>T	ENSP00000462345.1:n.*132A>T
NM_018129.3:c.650A>T	NP_060599.1:p.Glu217Val
XM_005257500.2:c.410A>T	XP_005257557.1:p.Glu137Val
XM_011524968.1:c.365A>T	XP_011523270.1:p.Glu122Val
XM_005257500.3:c.410A>T	XP_005257557.1:p.Glu137Val
XM_011524968.2:c.365A>T	XP_011523270.1:p.Glu122Val
XM_017024813.1:c.410A>T	XP_016880302.1:p.Glu137Val
NM_018129.4:c.650A>T MANE Select	NP_060599.1:p.Glu217Val