Canonical Allele Identifier: CA500454255

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024145T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946779T>A , CM000679.2:g.47946779T>A	GRCh38
NC_000017.10:g.46024145T>A , CM000679.1:g.46024145T>A	GRCh37
NC_000017.9:g.43379144T>A	NCBI36
NG_008744.1:g.10257T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.654T>A	ENSP00000225573.5:p.Pro218=
ENST00000434554.7:c.729T>A	ENSP00000399960.3:p.Pro243=
ENST00000582171.6:c.*448T>A	ENSP00000463994.1:n.*448T>A
ENST00000584061.6:c.714T>A	ENSP00000463972.2:p.Pro238=
ENST00000584806.2:n.452T>A
ENST00000641305.1:n.2282T>A
ENST00000641323.1:c.*802T>A	ENSP00000492965.1:n.*802T>A
ENST00000641427.1:n.783T>A
ENST00000641703.1:c.499T>A	ENSP00000493219.1:n.499T>A
ENST00000641709.1:c.*605T>A	ENSP00000493349.1:n.*605T>A
ENST00000641856.1:c.*1291T>A	ENSP00000493224.1:n.*1291T>A
ENST00000642017.2:c.783T>A MANE Select	ENSP00000493302.2:p.Pro261=
ENST00000225573.4:c.783T>A	ENSP00000225573.4:p.Pro261=
ENST00000434554.6:c.654T>A	ENSP00000399960.2:p.Pro218=
ENST00000582171.5:c.*448T>A	ENSP00000463994.1:n.*448T>A
ENST00000584806.1:n.452T>A
NM_018129.3:c.783T>A	NP_060599.1:p.Pro261=
XM_005257500.2:c.543T>A	XP_005257557.1:p.Pro181=
XM_011524968.1:c.498T>A	XP_011523270.1:p.Pro166=
XM_005257500.3:c.543T>A	XP_005257557.1:p.Pro181=
XM_011524968.2:c.498T>A	XP_011523270.1:p.Pro166=
XM_017024813.1:c.543T>A	XP_016880302.1:p.Pro181=
NM_018129.4:c.783T>A MANE Select	NP_060599.1:p.Pro261=