Canonical Allele Identifier: CA400062499

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024034C>A (hg19) ; chr17:g.47946668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946668C>A , CM000679.2:g.47946668C>A	GRCh38
NC_000017.10:g.46024034C>A , CM000679.1:g.46024034C>A	GRCh37
NC_000017.9:g.43379033C>A	NCBI36
NG_008744.1:g.10146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.543C>A	ENSP00000225573.5:p.Asn181Lys
ENST00000434554.7:c.618C>A	ENSP00000399960.3:p.Asn206Lys
ENST00000582171.6:c.*337C>A	ENSP00000463994.1:n.*337C>A
ENST00000583599.6:c.432C>A	ENSP00000463919.2:p.Asn144Lys
ENST00000584061.6:c.603C>A	ENSP00000463972.2:p.Asn201Lys
ENST00000584806.2:n.341C>A
ENST00000641285.1:n.452C>A
ENST00000641305.1:n.2171C>A
ENST00000641323.1:c.*691C>A	ENSP00000492965.1:n.*691C>A
ENST00000641427.1:n.672C>A
ENST00000641511.1:c.404C>A
ENST00000641703.1:c.388C>A	ENSP00000493219.1:n.388C>A
ENST00000641709.1:c.*494C>A	ENSP00000493349.1:n.*494C>A
ENST00000641856.1:c.*1180C>A	ENSP00000493224.1:n.*1180C>A
ENST00000642017.2:c.672C>A MANE Select	ENSP00000493302.2:p.Asn224Lys
ENST00000225573.4:c.672C>A	ENSP00000225573.4:p.Asn224Lys
ENST00000434554.6:c.543C>A	ENSP00000399960.2:p.Asn181Lys
ENST00000582171.5:c.*337C>A	ENSP00000463994.1:n.*337C>A
ENST00000584806.1:n.341C>A
ENST00000585320.5:c.*154C>A	ENSP00000462345.1:n.*154C>A
NM_018129.3:c.672C>A	NP_060599.1:p.Asn224Lys
XM_005257500.2:c.432C>A	XP_005257557.1:p.Asn144Lys
XM_011524968.1:c.387C>A	XP_011523270.1:p.Asn129Lys
XM_005257500.3:c.432C>A	XP_005257557.1:p.Asn144Lys
XM_011524968.2:c.387C>A	XP_011523270.1:p.Asn129Lys
XM_017024813.1:c.432C>A	XP_016880302.1:p.Asn144Lys
NM_018129.4:c.672C>A MANE Select	NP_060599.1:p.Asn224Lys