Canonical Allele Identifier: CA2073001850

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673598G= , CM000674.2:g.132673598G=	GRCh38
NC_000012.11:g.133250184G= , CM000674.1:g.133250184G=	GRCh37
NC_000012.10:g.131760257G=	NCBI36
NG_033840.1:g.18927C= , LRG_789:g.18927C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1336C= MANE Select	NP_006222.2:p.Arg446=
ENST00000320574.10:c.1336C= MANE Select	ENSP00000322570.5:p.Arg446=
NM_006231.3:c.1336C= , LRG_789t1:c.1336C=	NP_006222.2:p.Arg446=
ENST00000320574.9:c.1336C=	ENSP00000322570.5:p.Arg446=
ENST00000535270.5:c.1255C=	ENSP00000445753.1:p.Arg419=
ENST00000535934.2:n.1211C=
ENST00000537064.5:c.*383C=	ENSP00000442578.1:n.*383C=
ENST00000539215.5:n.44C=
ENST00000539215.6:c.44C=
ENST00000545015.2:n.1363C=
ENST00000672742.1:c.*838C=	ENSP00000500279.1:n.*838C=
ENST00000699982.1:c.1190C=
ENST00000699983.1:c.1190C=
ENST00000699984.1:c.1190C=
XM_011534795.1:c.1336C=	XP_011533097.1:p.Arg446=
XM_011534795.3:c.1336C=	XP_011533097.1:p.Arg446=
XM_011534796.1:c.1207C=	XP_011533098.1:p.Arg403=
XM_011534797.1:c.415C=	XP_011533099.1:p.Arg139=
XM_011534797.3:c.415C=	XP_011533099.1:p.Arg139=
XM_011534799.1:c.1336C=	XP_011533101.1:p.Arg446=
XM_011534799.2:c.1336C=	XP_011533101.1:p.Arg446=
XM_011534800.1:c.1336C=	XP_011533102.1:p.Arg446=
XM_011534801.1:c.1336C=	XP_011533103.1:p.Arg446=
XR_002957338.1:n.1540C=
XR_002957339.1:n.1540C=
XR_941395.1:n.1545C=
XR_941395.2:n.1540C=