Canonical Allele Identifier: CA2073001102

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672292G= , CM000674.2:g.132672292G=	GRCh38
NC_000012.11:g.133248878G= , CM000674.1:g.133248878G=	GRCh37
NC_000012.10:g.131758951G=	NCBI36
NG_033840.1:g.20233C= , LRG_789:g.20233C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.472C=
ENST00000699982.1:c.1571C=
ENST00000699983.1:c.1571C=
ENST00000699984.1:c.1571C=
ENST00000320574.10:c.1717C= MANE Select	ENSP00000322570.5:p.Arg573=
ENST00000672742.1:c.*1219C=	ENSP00000500279.1:n.*1219C=
ENST00000320574.9:c.1717C=	ENSP00000322570.5:p.Arg573=
ENST00000535270.5:c.1636C=	ENSP00000445753.1:p.Arg546=
ENST00000537064.5:c.*764C=	ENSP00000442578.1:n.*764C=
ENST00000539215.5:n.472C=
NM_006231.3:c.1717C= , LRG_789t1:c.1717C=	NP_006222.2:p.Arg573=
XM_011534795.1:c.1717C=	XP_011533097.1:p.Arg573=
XM_011534796.1:c.1588C=	XP_011533098.1:p.Arg530=
XM_011534797.1:c.796C=	XP_011533099.1:p.Arg266=
XM_011534798.1:c.379C=	XP_011533100.1:p.Arg127=
XM_011534799.1:c.1717C=	XP_011533101.1:p.Arg573=
XM_011534800.1:c.1717C=	XP_011533102.1:p.Arg573=
XM_011534801.1:c.1717C=	XP_011533103.1:p.Arg573=
XR_941395.1:n.1926C=
XM_011534795.3:c.1717C=	XP_011533097.1:p.Arg573=
XM_011534797.3:c.796C=	XP_011533099.1:p.Arg266=
XM_011534799.2:c.1717C=	XP_011533101.1:p.Arg573=
XR_002957338.1:n.1921C=
XR_002957339.1:n.1921C=
XR_941395.2:n.1921C=
NM_006231.4:c.1717C= MANE Select	NP_006222.2:p.Arg573=