Canonical Allele Identifier: CA2073001105

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672297A= , CM000674.2:g.132672297A=	GRCh38
NC_000012.11:g.133248883A= , CM000674.1:g.133248883A=	GRCh37
NC_000012.10:g.131758956A=	NCBI36
NG_033840.1:g.20228T= , LRG_789:g.20228T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.467T=
ENST00000699982.1:c.1566T=
ENST00000699983.1:c.1566T=
ENST00000699984.1:c.1566T=
ENST00000320574.10:c.1712T= MANE Select	ENSP00000322570.5:p.Leu571=
ENST00000672742.1:c.*1214T=	ENSP00000500279.1:n.*1214T=
ENST00000320574.9:c.1712T=	ENSP00000322570.5:p.Leu571=
ENST00000535270.5:c.1631T=	ENSP00000445753.1:p.Leu544=
ENST00000537064.5:c.*759T=	ENSP00000442578.1:n.*759T=
ENST00000539215.5:n.467T=
NM_006231.3:c.1712T= , LRG_789t1:c.1712T=	NP_006222.2:p.Leu571=
XM_011534795.1:c.1712T=	XP_011533097.1:p.Leu571=
XM_011534796.1:c.1583T=	XP_011533098.1:p.Leu528=
XM_011534797.1:c.791T=	XP_011533099.1:p.Leu264=
XM_011534798.1:c.374T=	XP_011533100.1:p.Leu125=
XM_011534799.1:c.1712T=	XP_011533101.1:p.Leu571=
XM_011534800.1:c.1712T=	XP_011533102.1:p.Leu571=
XM_011534801.1:c.1712T=	XP_011533103.1:p.Leu571=
XR_941395.1:n.1921T=
XM_011534795.3:c.1712T=	XP_011533097.1:p.Leu571=
XM_011534797.3:c.791T=	XP_011533099.1:p.Leu264=
XM_011534799.2:c.1712T=	XP_011533101.1:p.Leu571=
XR_002957338.1:n.1916T=
XR_002957339.1:n.1916T=
XR_941395.2:n.1916T=
NM_006231.4:c.1712T= MANE Select	NP_006222.2:p.Leu571=