Canonical Allele Identifier: CA2073001639

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673223T= , CM000674.2:g.132673223T=	GRCh38
NC_000012.11:g.133249809T= , CM000674.1:g.133249809T=	GRCh37
NC_000012.10:g.131759882T=	NCBI36
NG_033840.1:g.19302A= , LRG_789:g.19302A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.122A=
ENST00000545015.2:n.1441A=
ENST00000699982.1:c.1268A=
ENST00000699983.1:c.1268A=
ENST00000699984.1:c.1268A=
ENST00000320574.10:c.1414A= MANE Select	ENSP00000322570.5:p.Lys472=
ENST00000672742.1:c.*916A=	ENSP00000500279.1:n.*916A=
ENST00000320574.9:c.1414A=	ENSP00000322570.5:p.Lys472=
ENST00000535270.5:c.1333A=	ENSP00000445753.1:p.Lys445=
ENST00000535934.2:n.1289A=
ENST00000537064.5:c.*461A=	ENSP00000442578.1:n.*461A=
ENST00000539215.5:n.122A=
ENST00000545015.1:n.11A=
NM_006231.3:c.1414A= , LRG_789t1:c.1414A=	NP_006222.2:p.Lys472=
XM_011534795.1:c.1414A=	XP_011533097.1:p.Lys472=
XM_011534796.1:c.1285A=	XP_011533098.1:p.Lys429=
XM_011534797.1:c.493A=	XP_011533099.1:p.Lys165=
XM_011534798.1:c.76A=	XP_011533100.1:p.Lys26=
XM_011534799.1:c.1414A=	XP_011533101.1:p.Lys472=
XM_011534800.1:c.1414A=	XP_011533102.1:p.Lys472=
XM_011534801.1:c.1414A=	XP_011533103.1:p.Lys472=
XR_941395.1:n.1623A=
XM_011534795.3:c.1414A=	XP_011533097.1:p.Lys472=
XM_011534797.3:c.493A=	XP_011533099.1:p.Lys165=
XM_011534799.2:c.1414A=	XP_011533101.1:p.Lys472=
XR_002957338.1:n.1618A=
XR_002957339.1:n.1618A=
XR_941395.2:n.1618A=
NM_006231.4:c.1414A= MANE Select	NP_006222.2:p.Lys472=