Canonical Allele Identifier: CA500454048

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024070A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946704A>T , CM000679.2:g.47946704A>T	GRCh38
NC_000017.10:g.46024070A>T , CM000679.1:g.46024070A>T	GRCh37
NC_000017.9:g.43379069A>T	NCBI36
NG_008744.1:g.10182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.579A>T	ENSP00000225573.5:p.Leu193=
ENST00000434554.7:c.654A>T	ENSP00000399960.3:p.Leu218=
ENST00000582171.6:c.*373A>T	ENSP00000463994.1:n.*373A>T
ENST00000583599.6:c.468A>T	ENSP00000463919.2:p.Leu156=
ENST00000584061.6:c.639A>T	ENSP00000463972.2:p.Leu213=
ENST00000584806.2:n.377A>T
ENST00000641285.1:n.488A>T
ENST00000641305.1:n.2207A>T
ENST00000641323.1:c.*727A>T	ENSP00000492965.1:n.*727A>T
ENST00000641427.1:n.708A>T
ENST00000641511.1:c.440A>T
ENST00000641703.1:c.424A>T	ENSP00000493219.1:n.424A>T
ENST00000641709.1:c.*530A>T	ENSP00000493349.1:n.*530A>T
ENST00000641856.1:c.*1216A>T	ENSP00000493224.1:n.*1216A>T
ENST00000642017.2:c.708A>T MANE Select	ENSP00000493302.2:p.Leu236=
ENST00000225573.4:c.708A>T	ENSP00000225573.4:p.Leu236=
ENST00000434554.6:c.579A>T	ENSP00000399960.2:p.Leu193=
ENST00000582171.5:c.*373A>T	ENSP00000463994.1:n.*373A>T
ENST00000584806.1:n.377A>T
ENST00000585320.5:c.*190A>T	ENSP00000462345.1:n.*190A>T
NM_018129.3:c.708A>T	NP_060599.1:p.Leu236=
XM_005257500.2:c.468A>T	XP_005257557.1:p.Leu156=
XM_011524968.1:c.423A>T	XP_011523270.1:p.Leu141=
XM_005257500.3:c.468A>T	XP_005257557.1:p.Leu156=
XM_011524968.2:c.423A>T	XP_011523270.1:p.Leu141=
XM_017024813.1:c.468A>T	XP_016880302.1:p.Leu156=
NM_018129.4:c.708A>T MANE Select	NP_060599.1:p.Leu236=