Canonical Allele Identifier: CA316566

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206451
• ClinVar RCV Id: RCV000188499 ; RCV003507262
• dbSNP Id: rs550423482
• MyVariant Identifiers: chr17:g.46024036G>T (hg19) ; chr17:g.47946670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946670G>T , CM000679.2:g.47946670G>T	GRCh38
NC_000017.10:g.46024036G>T , CM000679.1:g.46024036G>T	GRCh37
NC_000017.9:g.43379035G>T	NCBI36
NG_008744.1:g.10148G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.545G>T	ENSP00000225573.5:p.Arg182Leu
ENST00000434554.7:c.620G>T	ENSP00000399960.3:p.Arg207Leu
ENST00000582171.6:c.*339G>T	ENSP00000463994.1:n.*339G>T
ENST00000583599.6:c.434G>T	ENSP00000463919.2:p.Arg145Leu
ENST00000584061.6:c.605G>T	ENSP00000463972.2:p.Arg202Leu
ENST00000584806.2:n.343G>T
ENST00000641285.1:n.454G>T
ENST00000641305.1:n.2173G>T
ENST00000641323.1:c.*693G>T	ENSP00000492965.1:n.*693G>T
ENST00000641427.1:n.674G>T
ENST00000641511.1:c.406G>T
ENST00000641703.1:c.390G>T	ENSP00000493219.1:n.390G>T
ENST00000641709.1:c.*496G>T	ENSP00000493349.1:n.*496G>T
ENST00000641856.1:c.*1182G>T	ENSP00000493224.1:n.*1182G>T
ENST00000642017.2:c.674G>T MANE Select	ENSP00000493302.2:p.Arg225Leu
ENST00000225573.4:c.674G>T	ENSP00000225573.4:p.Arg225Leu
ENST00000434554.6:c.545G>T	ENSP00000399960.2:p.Arg182Leu
ENST00000582171.5:c.*339G>T	ENSP00000463994.1:n.*339G>T
ENST00000584806.1:n.343G>T
ENST00000585320.5:c.*156G>T	ENSP00000462345.1:n.*156G>T
NM_018129.3:c.674G>T	NP_060599.1:p.Arg225Leu
XM_005257500.2:c.434G>T	XP_005257557.1:p.Arg145Leu
XM_011524968.1:c.389G>T	XP_011523270.1:p.Arg130Leu
XM_005257500.3:c.434G>T	XP_005257557.1:p.Arg145Leu
XM_011524968.2:c.389G>T	XP_011523270.1:p.Arg130Leu
XM_017024813.1:c.434G>T	XP_016880302.1:p.Arg145Leu
NM_018129.4:c.674G>T MANE Select	NP_060599.1:p.Arg225Leu