Canonical Allele Identifier: CA2073003001

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132675752G= , CM000674.2:g.132675752G=	GRCh38
NC_000012.11:g.133252338G= , CM000674.1:g.133252338G=	GRCh37
NC_000012.10:g.131762411G=	NCBI36
NG_033840.1:g.16773C= , LRG_789:g.16773C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1089C= MANE Select	NP_006222.2:p.Asn363=
ENST00000320574.10:c.1089C= MANE Select	ENSP00000322570.5:p.Asn363=
NM_006231.3:c.1089C= , LRG_789t1:c.1089C=	NP_006222.2:p.Asn363=
ENST00000320574.9:c.1089C=	ENSP00000322570.5:p.Asn363=
ENST00000535270.5:c.1008C=	ENSP00000445753.1:p.Asn336=
ENST00000535934.2:n.747C=
ENST00000537064.5:c.*136C=	ENSP00000442578.1:n.*136C=
ENST00000545015.2:n.1116C=
ENST00000672742.1:c.*591C=	ENSP00000500279.1:n.*591C=
ENST00000699982.1:c.943C=
ENST00000699983.1:c.943C=
ENST00000699984.1:c.943C=
XM_011534795.1:c.1089C=	XP_011533097.1:p.Asn363=
XM_011534795.3:c.1089C=	XP_011533097.1:p.Asn363=
XM_011534796.1:c.960C=	XP_011533098.1:p.Asn320=
XM_011534797.1:c.168C=	XP_011533099.1:p.Asn56=
XM_011534797.3:c.168C=	XP_011533099.1:p.Asn56=
XM_011534799.1:c.1089C=	XP_011533101.1:p.Asn363=
XM_011534799.2:c.1089C=	XP_011533101.1:p.Asn363=
XM_011534800.1:c.1089C=	XP_011533102.1:p.Asn363=
XM_011534801.1:c.1089C=	XP_011533103.1:p.Asn363=
XR_002957338.1:n.1293C=
XR_002957339.1:n.1293C=
XR_941395.1:n.1298C=
XR_941395.2:n.1293C=