Canonical Allele Identifier: CA1252384259

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643163T= , CM000664.2:g.55643163T=	GRCh38
NC_000002.11:g.55870298T= , CM000664.1:g.55870298T=	GRCh37
NC_000002.10:g.55723802T=	NCBI36
NG_033012.1:g.55748A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2064A= MANE Select	ENSP00000400646.2:p.Glu688=
ENST00000260604.8:c.*1606A=	ENSP00000260604.4:n.*1606A=
ENST00000415374.5:c.2064A=	ENSP00000393953.1:p.Glu688=
ENST00000447944.6:c.2064A=	ENSP00000400646.2:p.Glu688=
ENST00000481066.1:n.1126A=
NM_033109.4:c.2064A=	NP_149100.2:p.Glu688=
XM_005264629.1:c.1824A=	XP_005264686.1:p.Glu608=
XM_005264629.2:c.1824A=	XP_005264686.1:p.Glu608=
XM_017005172.1:c.1824A=	XP_016860661.1:p.Glu608=
NM_033109.5:c.2064A= MANE Select	NP_149100.2:p.Glu688=