Canonical Allele Identifier: CA500453985

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024052A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946686A>T , CM000679.2:g.47946686A>T	GRCh38
NC_000017.10:g.46024052A>T , CM000679.1:g.46024052A>T	GRCh37
NC_000017.9:g.43379051A>T	NCBI36
NG_008744.1:g.10164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.561A>T	ENSP00000225573.5:p.Ile187=
ENST00000434554.7:c.636A>T	ENSP00000399960.3:p.Ile212=
ENST00000582171.6:c.*355A>T	ENSP00000463994.1:n.*355A>T
ENST00000583599.6:c.450A>T	ENSP00000463919.2:p.Ile150=
ENST00000584061.6:c.621A>T	ENSP00000463972.2:p.Ile207=
ENST00000584806.2:n.359A>T
ENST00000641285.1:n.470A>T
ENST00000641305.1:n.2189A>T
ENST00000641323.1:c.*709A>T	ENSP00000492965.1:n.*709A>T
ENST00000641427.1:n.690A>T
ENST00000641511.1:c.422A>T
ENST00000641703.1:c.406A>T	ENSP00000493219.1:n.406A>T
ENST00000641709.1:c.*512A>T	ENSP00000493349.1:n.*512A>T
ENST00000641856.1:c.*1198A>T	ENSP00000493224.1:n.*1198A>T
ENST00000642017.2:c.690A>T MANE Select	ENSP00000493302.2:p.Ile230=
ENST00000225573.4:c.690A>T	ENSP00000225573.4:p.Ile230=
ENST00000434554.6:c.561A>T	ENSP00000399960.2:p.Ile187=
ENST00000582171.5:c.*355A>T	ENSP00000463994.1:n.*355A>T
ENST00000584806.1:n.359A>T
ENST00000585320.5:c.*172A>T	ENSP00000462345.1:n.*172A>T
NM_018129.3:c.690A>T	NP_060599.1:p.Ile230=
XM_005257500.2:c.450A>T	XP_005257557.1:p.Ile150=
XM_011524968.1:c.405A>T	XP_011523270.1:p.Ile135=
XM_005257500.3:c.450A>T	XP_005257557.1:p.Ile150=
XM_011524968.2:c.405A>T	XP_011523270.1:p.Ile135=
XM_017024813.1:c.450A>T	XP_016880302.1:p.Ile150=
NM_018129.4:c.690A>T MANE Select	NP_060599.1:p.Ile230=