Canonical Allele Identifier: CA2073001112

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672310A= , CM000674.2:g.132672310A=	GRCh38
NC_000012.11:g.133248896A= , CM000674.1:g.133248896A=	GRCh37
NC_000012.10:g.131758969A=	NCBI36
NG_033840.1:g.20215T= , LRG_789:g.20215T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.454T=
ENST00000699982.1:c.1553T=
ENST00000699983.1:c.1553T=
ENST00000699984.1:c.1553T=
ENST00000320574.10:c.1699T= MANE Select	ENSP00000322570.5:p.Phe567=
ENST00000672742.1:c.*1201T=	ENSP00000500279.1:n.*1201T=
ENST00000320574.9:c.1699T=	ENSP00000322570.5:p.Phe567=
ENST00000535270.5:c.1618T=	ENSP00000445753.1:p.Phe540=
ENST00000537064.5:c.*746T=	ENSP00000442578.1:n.*746T=
ENST00000539215.5:n.454T=
NM_006231.3:c.1699T= , LRG_789t1:c.1699T=	NP_006222.2:p.Phe567=
XM_011534795.1:c.1699T=	XP_011533097.1:p.Phe567=
XM_011534796.1:c.1570T=	XP_011533098.1:p.Phe524=
XM_011534797.1:c.778T=	XP_011533099.1:p.Phe260=
XM_011534798.1:c.361T=	XP_011533100.1:p.Phe121=
XM_011534799.1:c.1699T=	XP_011533101.1:p.Phe567=
XM_011534800.1:c.1699T=	XP_011533102.1:p.Phe567=
XM_011534801.1:c.1699T=	XP_011533103.1:p.Phe567=
XR_941395.1:n.1908T=
XM_011534795.3:c.1699T=	XP_011533097.1:p.Phe567=
XM_011534797.3:c.778T=	XP_011533099.1:p.Phe260=
XM_011534799.2:c.1699T=	XP_011533101.1:p.Phe567=
XR_002957338.1:n.1903T=
XR_002957339.1:n.1903T=
XR_941395.2:n.1903T=
NM_006231.4:c.1699T= MANE Select	NP_006222.2:p.Phe567=