Canonical Allele Identifier: CA2262900641

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946688T= , CM000679.2:g.47946688T=	GRCh38
NC_000017.10:g.46024054T= , CM000679.1:g.46024054T=	GRCh37
NC_000017.9:g.43379053T=	NCBI36
NG_008744.1:g.10166T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.563T=	ENSP00000225573.5:p.Val188=
ENST00000434554.7:c.638T=	ENSP00000399960.3:p.Val213=
ENST00000582171.6:c.*357T=	ENSP00000463994.1:n.*357T=
ENST00000583599.6:c.452T=	ENSP00000463919.2:p.Val151=
ENST00000584061.6:c.623T=	ENSP00000463972.2:p.Val208=
ENST00000584806.2:n.361T=
ENST00000641285.1:n.472T=
ENST00000641305.1:n.2191T=
ENST00000641323.1:c.*711T=	ENSP00000492965.1:n.*711T=
ENST00000641427.1:n.692T=
ENST00000641511.1:c.424T=
ENST00000641703.1:c.408T=	ENSP00000493219.1:n.408T=
ENST00000641709.1:c.*514T=	ENSP00000493349.1:n.*514T=
ENST00000641856.1:c.*1200T=	ENSP00000493224.1:n.*1200T=
ENST00000642017.2:c.692T= MANE Select	ENSP00000493302.2:p.Val231=
ENST00000225573.4:c.692T=	ENSP00000225573.4:p.Val231=
ENST00000434554.6:c.563T=	ENSP00000399960.2:p.Val188=
ENST00000582171.5:c.*357T=	ENSP00000463994.1:n.*357T=
ENST00000584806.1:n.361T=
ENST00000585320.5:c.*174T=	ENSP00000462345.1:n.*174T=
NM_018129.3:c.692T=	NP_060599.1:p.Val231=
XM_005257500.2:c.452T=	XP_005257557.1:p.Val151=
XM_011524968.1:c.407T=	XP_011523270.1:p.Val136=
XM_005257500.3:c.452T=	XP_005257557.1:p.Val151=
XM_011524968.2:c.407T=	XP_011523270.1:p.Val136=
XM_017024813.1:c.452T=	XP_016880302.1:p.Val151=
NM_018129.4:c.692T= MANE Select	NP_060599.1:p.Val231=