Canonical Allele Identifier: CA2262900632

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946669C= , CM000679.2:g.47946669C=	GRCh38
NC_000017.10:g.46024035C= , CM000679.1:g.46024035C=	GRCh37
NC_000017.9:g.43379034C=	NCBI36
NG_008744.1:g.10147C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.544C=	ENSP00000225573.5:p.Arg182=
ENST00000434554.7:c.619C=	ENSP00000399960.3:p.Arg207=
ENST00000582171.6:c.*338C=	ENSP00000463994.1:n.*338C=
ENST00000583599.6:c.433C=	ENSP00000463919.2:p.Arg145=
ENST00000584061.6:c.604C=	ENSP00000463972.2:p.Arg202=
ENST00000584806.2:n.342C=
ENST00000641285.1:n.453C=
ENST00000641305.1:n.2172C=
ENST00000641323.1:c.*692C=	ENSP00000492965.1:n.*692C=
ENST00000641427.1:n.673C=
ENST00000641511.1:c.405C=
ENST00000641703.1:c.389C=	ENSP00000493219.1:n.389C=
ENST00000641709.1:c.*495C=	ENSP00000493349.1:n.*495C=
ENST00000641856.1:c.*1181C=	ENSP00000493224.1:n.*1181C=
ENST00000642017.2:c.673C= MANE Select	ENSP00000493302.2:p.Arg225=
ENST00000225573.4:c.673C=	ENSP00000225573.4:p.Arg225=
ENST00000434554.6:c.544C=	ENSP00000399960.2:p.Arg182=
ENST00000582171.5:c.*338C=	ENSP00000463994.1:n.*338C=
ENST00000584806.1:n.342C=
ENST00000585320.5:c.*155C=	ENSP00000462345.1:n.*155C=
NM_018129.3:c.673C=	NP_060599.1:p.Arg225=
XM_005257500.2:c.433C=	XP_005257557.1:p.Arg145=
XM_011524968.1:c.388C=	XP_011523270.1:p.Arg130=
XM_005257500.3:c.433C=	XP_005257557.1:p.Arg145=
XM_011524968.2:c.388C=	XP_011523270.1:p.Arg130=
XM_017024813.1:c.433C=	XP_016880302.1:p.Arg145=
NM_018129.4:c.673C= MANE Select	NP_060599.1:p.Arg225=