Canonical Allele Identifier: CA400062171

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024002C>A (hg19) ; chr17:g.47946636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946636C>A , CM000679.2:g.47946636C>A	GRCh38
NC_000017.10:g.46024002C>A , CM000679.1:g.46024002C>A	GRCh37
NC_000017.9:g.43379001C>A	NCBI36
NG_008744.1:g.10114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.511C>A	ENSP00000225573.5:p.Gln171Lys
ENST00000434554.7:c.586C>A	ENSP00000399960.3:p.Gln196Lys
ENST00000582171.6:c.*305C>A	ENSP00000463994.1:n.*305C>A
ENST00000583599.6:c.400C>A	ENSP00000463919.2:p.Gln134Lys
ENST00000584061.6:c.571C>A	ENSP00000463972.2:p.Gln191Lys
ENST00000584806.2:n.309C>A
ENST00000641285.1:n.420C>A
ENST00000641305.1:n.2139C>A
ENST00000641323.1:c.*659C>A	ENSP00000492965.1:n.*659C>A
ENST00000641427.1:n.640C>A
ENST00000641511.1:c.372C>A
ENST00000641703.1:c.356C>A	ENSP00000493219.1:n.356C>A
ENST00000641709.1:c.*462C>A	ENSP00000493349.1:n.*462C>A
ENST00000641856.1:c.*1148C>A	ENSP00000493224.1:n.*1148C>A
ENST00000642017.2:c.640C>A MANE Select	ENSP00000493302.2:p.Gln214Lys
ENST00000225573.4:c.640C>A	ENSP00000225573.4:p.Gln214Lys
ENST00000434554.6:c.511C>A	ENSP00000399960.2:p.Gln171Lys
ENST00000582171.5:c.*305C>A	ENSP00000463994.1:n.*305C>A
ENST00000584806.1:n.309C>A
ENST00000585320.5:c.*122C>A	ENSP00000462345.1:n.*122C>A
NM_018129.3:c.640C>A	NP_060599.1:p.Gln214Lys
XM_005257500.2:c.400C>A	XP_005257557.1:p.Gln134Lys
XM_011524968.1:c.355C>A	XP_011523270.1:p.Gln119Lys
XM_005257500.3:c.400C>A	XP_005257557.1:p.Gln134Lys
XM_011524968.2:c.355C>A	XP_011523270.1:p.Gln119Lys
XM_017024813.1:c.400C>A	XP_016880302.1:p.Gln134Lys
NM_018129.4:c.640C>A MANE Select	NP_060599.1:p.Gln214Lys