Canonical Allele Identifier: CA500454015

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024062C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946696C>A , CM000679.2:g.47946696C>A	GRCh38
NC_000017.10:g.46024062C>A , CM000679.1:g.46024062C>A	GRCh37
NC_000017.9:g.43379061C>A	NCBI36
NG_008744.1:g.10174C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.571C>A	ENSP00000225573.5:p.Arg191=
ENST00000434554.7:c.646C>A	ENSP00000399960.3:p.Arg216=
ENST00000582171.6:c.*365C>A	ENSP00000463994.1:n.*365C>A
ENST00000583599.6:c.460C>A	ENSP00000463919.2:p.Arg154=
ENST00000584061.6:c.631C>A	ENSP00000463972.2:p.Arg211=
ENST00000584806.2:n.369C>A
ENST00000641285.1:n.480C>A
ENST00000641305.1:n.2199C>A
ENST00000641323.1:c.*719C>A	ENSP00000492965.1:n.*719C>A
ENST00000641427.1:n.700C>A
ENST00000641511.1:c.432C>A
ENST00000641703.1:c.416C>A	ENSP00000493219.1:n.416C>A
ENST00000641709.1:c.*522C>A	ENSP00000493349.1:n.*522C>A
ENST00000641856.1:c.*1208C>A	ENSP00000493224.1:n.*1208C>A
ENST00000642017.2:c.700C>A MANE Select	ENSP00000493302.2:p.Arg234=
ENST00000225573.4:c.700C>A	ENSP00000225573.4:p.Arg234=
ENST00000434554.6:c.571C>A	ENSP00000399960.2:p.Arg191=
ENST00000582171.5:c.*365C>A	ENSP00000463994.1:n.*365C>A
ENST00000584806.1:n.369C>A
ENST00000585320.5:c.*182C>A	ENSP00000462345.1:n.*182C>A
NM_018129.3:c.700C>A	NP_060599.1:p.Arg234=
XM_005257500.2:c.460C>A	XP_005257557.1:p.Arg154=
XM_011524968.1:c.415C>A	XP_011523270.1:p.Arg139=
XM_005257500.3:c.460C>A	XP_005257557.1:p.Arg154=
XM_011524968.2:c.415C>A	XP_011523270.1:p.Arg139=
XM_017024813.1:c.460C>A	XP_016880302.1:p.Arg154=
NM_018129.4:c.700C>A MANE Select	NP_060599.1:p.Arg234=