Canonical Allele Identifier: CA400062696

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024051T>A (hg19) ; chr17:g.47946685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946685T>A , CM000679.2:g.47946685T>A	GRCh38
NC_000017.10:g.46024051T>A , CM000679.1:g.46024051T>A	GRCh37
NC_000017.9:g.43379050T>A	NCBI36
NG_008744.1:g.10163T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.560T>A	ENSP00000225573.5:p.Ile187Lys
ENST00000434554.7:c.635T>A	ENSP00000399960.3:p.Ile212Lys
ENST00000582171.6:c.*354T>A	ENSP00000463994.1:n.*354T>A
ENST00000583599.6:c.449T>A	ENSP00000463919.2:p.Ile150Lys
ENST00000584061.6:c.620T>A	ENSP00000463972.2:p.Ile207Lys
ENST00000584806.2:n.358T>A
ENST00000641285.1:n.469T>A
ENST00000641305.1:n.2188T>A
ENST00000641323.1:c.*708T>A	ENSP00000492965.1:n.*708T>A
ENST00000641427.1:n.689T>A
ENST00000641511.1:c.421T>A
ENST00000641703.1:c.405T>A	ENSP00000493219.1:n.405T>A
ENST00000641709.1:c.*511T>A	ENSP00000493349.1:n.*511T>A
ENST00000641856.1:c.*1197T>A	ENSP00000493224.1:n.*1197T>A
ENST00000642017.2:c.689T>A MANE Select	ENSP00000493302.2:p.Ile230Lys
ENST00000225573.4:c.689T>A	ENSP00000225573.4:p.Ile230Lys
ENST00000434554.6:c.560T>A	ENSP00000399960.2:p.Ile187Lys
ENST00000582171.5:c.*354T>A	ENSP00000463994.1:n.*354T>A
ENST00000584806.1:n.358T>A
ENST00000585320.5:c.*171T>A	ENSP00000462345.1:n.*171T>A
NM_018129.3:c.689T>A	NP_060599.1:p.Ile230Lys
XM_005257500.2:c.449T>A	XP_005257557.1:p.Ile150Lys
XM_011524968.1:c.404T>A	XP_011523270.1:p.Ile135Lys
XM_005257500.3:c.449T>A	XP_005257557.1:p.Ile150Lys
XM_011524968.2:c.404T>A	XP_011523270.1:p.Ile135Lys
XM_017024813.1:c.449T>A	XP_016880302.1:p.Ile150Lys
NM_018129.4:c.689T>A MANE Select	NP_060599.1:p.Ile230Lys