Canonical Allele Identifier: CA400062810

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024059C>G (hg19) ; chr17:g.47946693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946693C>G , CM000679.2:g.47946693C>G	GRCh38
NC_000017.10:g.46024059C>G , CM000679.1:g.46024059C>G	GRCh37
NC_000017.9:g.43379058C>G	NCBI36
NG_008744.1:g.10171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.568C>G	ENSP00000225573.5:p.Arg190Gly
ENST00000434554.7:c.643C>G	ENSP00000399960.3:p.Arg215Gly
ENST00000582171.6:c.*362C>G	ENSP00000463994.1:n.*362C>G
ENST00000583599.6:c.457C>G	ENSP00000463919.2:p.Arg153Gly
ENST00000584061.6:c.628C>G	ENSP00000463972.2:p.Arg210Gly
ENST00000584806.2:n.366C>G
ENST00000641285.1:n.477C>G
ENST00000641305.1:n.2196C>G
ENST00000641323.1:c.*716C>G	ENSP00000492965.1:n.*716C>G
ENST00000641427.1:n.697C>G
ENST00000641511.1:c.429C>G
ENST00000641703.1:c.413C>G	ENSP00000493219.1:n.413C>G
ENST00000641709.1:c.*519C>G	ENSP00000493349.1:n.*519C>G
ENST00000641856.1:c.*1205C>G	ENSP00000493224.1:n.*1205C>G
ENST00000642017.2:c.697C>G MANE Select	ENSP00000493302.2:p.Arg233Gly
ENST00000225573.4:c.697C>G	ENSP00000225573.4:p.Arg233Gly
ENST00000434554.6:c.568C>G	ENSP00000399960.2:p.Arg190Gly
ENST00000582171.5:c.*362C>G	ENSP00000463994.1:n.*362C>G
ENST00000584806.1:n.366C>G
ENST00000585320.5:c.*179C>G	ENSP00000462345.1:n.*179C>G
NM_018129.3:c.697C>G	NP_060599.1:p.Arg233Gly
XM_005257500.2:c.457C>G	XP_005257557.1:p.Arg153Gly
XM_011524968.1:c.412C>G	XP_011523270.1:p.Arg138Gly
XM_005257500.3:c.457C>G	XP_005257557.1:p.Arg153Gly
XM_011524968.2:c.412C>G	XP_011523270.1:p.Arg138Gly
XM_017024813.1:c.457C>G	XP_016880302.1:p.Arg153Gly
NM_018129.4:c.697C>G MANE Select	NP_060599.1:p.Arg233Gly