Canonical Allele Identifier: CA2262900609

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946620C= , CM000679.2:g.47946620C=	GRCh38
NC_000017.10:g.46023986C= , CM000679.1:g.46023986C=	GRCh37
NC_000017.9:g.43378985C=	NCBI36
NG_008744.1:g.10098C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.495C=	ENSP00000225573.5:p.Gly165=
ENST00000434554.7:c.570C=	ENSP00000399960.3:p.Gly190=
ENST00000582171.6:c.*289C=	ENSP00000463994.1:n.*289C=
ENST00000583599.6:c.384C=	ENSP00000463919.2:p.Gly128=
ENST00000584061.6:c.555C=	ENSP00000463972.2:p.Gly185=
ENST00000584806.2:n.293C=
ENST00000641285.1:n.404C=
ENST00000641305.1:n.2123C=
ENST00000641323.1:c.*643C=	ENSP00000492965.1:n.*643C=
ENST00000641427.1:n.624C=
ENST00000641511.1:c.356C=
ENST00000641703.1:c.340C=	ENSP00000493219.1:n.340C=
ENST00000641709.1:c.*446C=	ENSP00000493349.1:n.*446C=
ENST00000641856.1:c.*1132C=	ENSP00000493224.1:n.*1132C=
ENST00000642017.2:c.624C= MANE Select	ENSP00000493302.2:p.Gly208=
ENST00000225573.4:c.624C=	ENSP00000225573.4:p.Gly208=
ENST00000434554.6:c.495C=	ENSP00000399960.2:p.Gly165=
ENST00000582171.5:c.*289C=	ENSP00000463994.1:n.*289C=
ENST00000584806.1:n.293C=
ENST00000585320.5:c.*106C=	ENSP00000462345.1:n.*106C=
NM_018129.3:c.624C=	NP_060599.1:p.Gly208=
XM_005257500.2:c.384C=	XP_005257557.1:p.Gly128=
XM_011524968.1:c.339C=	XP_011523270.1:p.Gly113=
XM_005257500.3:c.384C=	XP_005257557.1:p.Gly128=
XM_011524968.2:c.339C=	XP_011523270.1:p.Gly113=
XM_017024813.1:c.384C=	XP_016880302.1:p.Gly128=
NM_018129.4:c.624C= MANE Select	NP_060599.1:p.Gly208=