Canonical Allele Identifier: CA500453925

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946668-C-T
• MyVariant Identifiers: chr17:g.46024034C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.543C>T	ENSP00000225573.5:p.Asn181=
ENST00000434554.7:c.618C>T	ENSP00000399960.3:p.Asn206=
ENST00000582171.6:c.*337C>T	ENSP00000463994.1:n.*337C>T
ENST00000583599.6:c.432C>T	ENSP00000463919.2:p.Asn144=
ENST00000584061.6:c.603C>T	ENSP00000463972.2:p.Asn201=
ENST00000584806.2:n.341C>T
ENST00000641285.1:n.452C>T
ENST00000641305.1:n.2171C>T
ENST00000641323.1:c.*691C>T	ENSP00000492965.1:n.*691C>T
ENST00000641427.1:n.672C>T
ENST00000641511.1:c.404C>T
ENST00000641703.1:c.388C>T	ENSP00000493219.1:n.388C>T
ENST00000641709.1:c.*494C>T	ENSP00000493349.1:n.*494C>T
ENST00000641856.1:c.*1180C>T	ENSP00000493224.1:n.*1180C>T
ENST00000642017.2:c.672C>T MANE Select	ENSP00000493302.2:p.Asn224=
ENST00000225573.4:c.672C>T	ENSP00000225573.4:p.Asn224=
ENST00000434554.6:c.543C>T	ENSP00000399960.2:p.Asn181=
ENST00000582171.5:c.*337C>T	ENSP00000463994.1:n.*337C>T
ENST00000584806.1:n.341C>T
ENST00000585320.5:c.*154C>T	ENSP00000462345.1:n.*154C>T
NM_018129.3:c.672C>T	NP_060599.1:p.Asn224=
XM_005257500.2:c.432C>T	XP_005257557.1:p.Asn144=
XM_011524968.1:c.387C>T	XP_011523270.1:p.Asn129=
XM_005257500.3:c.432C>T	XP_005257557.1:p.Asn144=
XM_011524968.2:c.387C>T	XP_011523270.1:p.Asn129=
XM_017024813.1:c.432C>T	XP_016880302.1:p.Asn144=
NM_018129.4:c.672C>T MANE Select	NP_060599.1:p.Asn224=