Canonical Allele Identifier: CA1252384268

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643169T= , CM000664.2:g.55643169T=	GRCh38
NC_000002.11:g.55870304T= , CM000664.1:g.55870304T=	GRCh37
NC_000002.10:g.55723808T=	NCBI36
NG_033012.1:g.55742A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2058A= MANE Select	ENSP00000400646.2:p.Ile686=
ENST00000260604.8:c.*1600A=	ENSP00000260604.4:n.*1600A=
ENST00000415374.5:c.2058A=	ENSP00000393953.1:p.Ile686=
ENST00000447944.6:c.2058A=	ENSP00000400646.2:p.Ile686=
ENST00000481066.1:n.1120A=
NM_033109.4:c.2058A=	NP_149100.2:p.Ile686=
XM_005264629.1:c.1818A=	XP_005264686.1:p.Ile606=
XM_005264629.2:c.1818A=	XP_005264686.1:p.Ile606=
XM_017005172.1:c.1818A=	XP_016860661.1:p.Ile606=
NM_033109.5:c.2058A= MANE Select	NP_149100.2:p.Ile686=