Canonical Allele Identifier: CA2073001668

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673270G= , CM000674.2:g.132673270G=	GRCh38
NC_000012.11:g.133249856G= , CM000674.1:g.133249856G=	GRCh37
NC_000012.10:g.131759929G=	NCBI36
NG_033840.1:g.19255C= , LRG_789:g.19255C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.75C=
ENST00000545015.2:n.1394C=
ENST00000699982.1:c.1221C=
ENST00000699983.1:c.1221C=
ENST00000699984.1:c.1221C=
ENST00000320574.10:c.1367C= MANE Select	ENSP00000322570.5:p.Ala456=
ENST00000672742.1:c.*869C=	ENSP00000500279.1:n.*869C=
ENST00000320574.9:c.1367C=	ENSP00000322570.5:p.Ala456=
ENST00000535270.5:c.1286C=	ENSP00000445753.1:p.Ala429=
ENST00000535934.2:n.1242C=
ENST00000537064.5:c.*414C=	ENSP00000442578.1:n.*414C=
ENST00000539215.5:n.75C=
NM_006231.3:c.1367C= , LRG_789t1:c.1367C=	NP_006222.2:p.Ala456=
XM_011534795.1:c.1367C=	XP_011533097.1:p.Ala456=
XM_011534796.1:c.1238C=	XP_011533098.1:p.Ala413=
XM_011534797.1:c.446C=	XP_011533099.1:p.Ala149=
XM_011534798.1:c.29C=	XP_011533100.1:p.Ala10=
XM_011534799.1:c.1367C=	XP_011533101.1:p.Ala456=
XM_011534800.1:c.1367C=	XP_011533102.1:p.Ala456=
XM_011534801.1:c.1367C=	XP_011533103.1:p.Ala456=
XR_941395.1:n.1576C=
XM_011534795.3:c.1367C=	XP_011533097.1:p.Ala456=
XM_011534797.3:c.446C=	XP_011533099.1:p.Ala149=
XM_011534799.2:c.1367C=	XP_011533101.1:p.Ala456=
XR_002957338.1:n.1571C=
XR_002957339.1:n.1571C=
XR_941395.2:n.1571C=
NM_006231.4:c.1367C= MANE Select	NP_006222.2:p.Ala456=