Canonical Allele Identifier: CA2262900657

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946721C= , CM000679.2:g.47946721C=	GRCh38
NC_000017.10:g.46024087C= , CM000679.1:g.46024087C=	GRCh37
NC_000017.9:g.43379086C=	NCBI36
NG_008744.1:g.10199C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.596C=	ENSP00000225573.5:p.Pro199=
ENST00000434554.7:c.671C=	ENSP00000399960.3:p.Pro224=
ENST00000582171.6:c.*390C=	ENSP00000463994.1:n.*390C=
ENST00000583599.6:c.485C=	ENSP00000463919.2:p.Pro162=
ENST00000584061.6:c.656C=	ENSP00000463972.2:p.Pro219=
ENST00000584806.2:n.394C=
ENST00000641305.1:n.2224C=
ENST00000641323.1:c.*744C=	ENSP00000492965.1:n.*744C=
ENST00000641427.1:n.725C=
ENST00000641703.1:c.441C=	ENSP00000493219.1:n.441C=
ENST00000641709.1:c.*547C=	ENSP00000493349.1:n.*547C=
ENST00000641856.1:c.*1233C=	ENSP00000493224.1:n.*1233C=
ENST00000642017.2:c.725C= MANE Select	ENSP00000493302.2:p.Pro242=
ENST00000225573.4:c.725C=	ENSP00000225573.4:p.Pro242=
ENST00000434554.6:c.596C=	ENSP00000399960.2:p.Pro199=
ENST00000582171.5:c.*390C=	ENSP00000463994.1:n.*390C=
ENST00000584806.1:n.394C=
ENST00000585320.5:c.*207C=	ENSP00000462345.1:n.*207C=
NM_018129.3:c.725C=	NP_060599.1:p.Pro242=
XM_005257500.2:c.485C=	XP_005257557.1:p.Pro162=
XM_011524968.1:c.440C=	XP_011523270.1:p.Pro147=
XM_005257500.3:c.485C=	XP_005257557.1:p.Pro162=
XM_011524968.2:c.440C=	XP_011523270.1:p.Pro147=
XM_017024813.1:c.485C=	XP_016880302.1:p.Pro162=
NM_018129.4:c.725C= MANE Select	NP_060599.1:p.Pro242=