Canonical Allele Identifier: CA500453992

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024055C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946689C>G , CM000679.2:g.47946689C>G	GRCh38
NC_000017.10:g.46024055C>G , CM000679.1:g.46024055C>G	GRCh37
NC_000017.9:g.43379054C>G	NCBI36
NG_008744.1:g.10167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.564C>G	ENSP00000225573.5:p.Val188=
ENST00000434554.7:c.639C>G	ENSP00000399960.3:p.Val213=
ENST00000582171.6:c.*358C>G	ENSP00000463994.1:n.*358C>G
ENST00000583599.6:c.453C>G	ENSP00000463919.2:p.Val151=
ENST00000584061.6:c.624C>G	ENSP00000463972.2:p.Val208=
ENST00000584806.2:n.362C>G
ENST00000641285.1:n.473C>G
ENST00000641305.1:n.2192C>G
ENST00000641323.1:c.*712C>G	ENSP00000492965.1:n.*712C>G
ENST00000641427.1:n.693C>G
ENST00000641511.1:c.425C>G
ENST00000641703.1:c.409C>G	ENSP00000493219.1:n.409C>G
ENST00000641709.1:c.*515C>G	ENSP00000493349.1:n.*515C>G
ENST00000641856.1:c.*1201C>G	ENSP00000493224.1:n.*1201C>G
ENST00000642017.2:c.693C>G MANE Select	ENSP00000493302.2:p.Val231=
ENST00000225573.4:c.693C>G	ENSP00000225573.4:p.Val231=
ENST00000434554.6:c.564C>G	ENSP00000399960.2:p.Val188=
ENST00000582171.5:c.*358C>G	ENSP00000463994.1:n.*358C>G
ENST00000584806.1:n.362C>G
ENST00000585320.5:c.*175C>G	ENSP00000462345.1:n.*175C>G
NM_018129.3:c.693C>G	NP_060599.1:p.Val231=
XM_005257500.2:c.453C>G	XP_005257557.1:p.Val151=
XM_011524968.1:c.408C>G	XP_011523270.1:p.Val136=
XM_005257500.3:c.453C>G	XP_005257557.1:p.Val151=
XM_011524968.2:c.408C>G	XP_011523270.1:p.Val136=
XM_017024813.1:c.453C>G	XP_016880302.1:p.Val151=
NM_018129.4:c.693C>G MANE Select	NP_060599.1:p.Val231=