Canonical Allele Identifier: CA2073001628

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673197A= , CM000674.2:g.132673197A=	GRCh38
NC_000012.11:g.133249783A= , CM000674.1:g.133249783A=	GRCh37
NC_000012.10:g.131759856A=	NCBI36
NG_033840.1:g.19328T= , LRG_789:g.19328T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.148T=
ENST00000545015.2:n.1467T=
ENST00000699982.1:c.1294T=
ENST00000699983.1:c.1294T=
ENST00000699984.1:c.1294T=
ENST00000320574.10:c.1440T= MANE Select	ENSP00000322570.5:p.Ala480=
ENST00000672742.1:c.*942T=	ENSP00000500279.1:n.*942T=
ENST00000320574.9:c.1440T=	ENSP00000322570.5:p.Ala480=
ENST00000535270.5:c.1359T=	ENSP00000445753.1:p.Ala453=
ENST00000535934.2:n.1315T=
ENST00000537064.5:c.*487T=	ENSP00000442578.1:n.*487T=
ENST00000539215.5:n.148T=
ENST00000545015.1:n.37T=
NM_006231.3:c.1440T= , LRG_789t1:c.1440T=	NP_006222.2:p.Ala480=
XM_011534795.1:c.1440T=	XP_011533097.1:p.Ala480=
XM_011534796.1:c.1311T=	XP_011533098.1:p.Ala437=
XM_011534797.1:c.519T=	XP_011533099.1:p.Ala173=
XM_011534798.1:c.102T=	XP_011533100.1:p.Ala34=
XM_011534799.1:c.1440T=	XP_011533101.1:p.Ala480=
XM_011534800.1:c.1440T=	XP_011533102.1:p.Ala480=
XM_011534801.1:c.1440T=	XP_011533103.1:p.Ala480=
XR_941395.1:n.1649T=
XM_011534795.3:c.1440T=	XP_011533097.1:p.Ala480=
XM_011534797.3:c.519T=	XP_011533099.1:p.Ala173=
XM_011534799.2:c.1440T=	XP_011533101.1:p.Ala480=
XR_002957338.1:n.1644T=
XR_002957339.1:n.1644T=
XR_941395.2:n.1644T=
NM_006231.4:c.1440T= MANE Select	NP_006222.2:p.Ala480=