Canonical Allele Identifier: CA6894243

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132677626G>A , CM000674.2:g.132677626G>A	GRCh38
NC_000012.11:g.133254212G>A , CM000674.1:g.133254212G>A	GRCh37
NC_000012.10:g.131764285G>A	NCBI36
NG_033840.1:g.14899C>T , LRG_789:g.14899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.699C>T
ENST00000699982.1:c.518C>T
ENST00000699983.1:c.518C>T
ENST00000699984.1:c.518C>T
ENST00000699985.1:n.733C>T
ENST00000320574.10:c.672C>T MANE Select	ENSP00000322570.5:p.Tyr224=
ENST00000672742.1:c.*166C>T	ENSP00000500279.1:n.*166C>T
ENST00000320574.9:c.672C>T	ENSP00000322570.5:p.Tyr224=
ENST00000535270.5:c.591C>T	ENSP00000445753.1:p.Tyr197=
ENST00000537064.5:c.672C>T	ENSP00000442578.1:p.Tyr224=
NM_006231.3:c.672C>T , LRG_789t1:c.672C>T	NP_006222.2:p.Tyr224=
XM_011534795.1:c.672C>T	XP_011533097.1:p.Tyr224=
XM_011534796.1:c.543C>T	XP_011533098.1:p.Tyr181=
XM_011534799.1:c.672C>T	XP_011533101.1:p.Tyr224=
XM_011534800.1:c.672C>T	XP_011533102.1:p.Tyr224=
XM_011534801.1:c.672C>T	XP_011533103.1:p.Tyr224=
XR_941395.1:n.881C>T
XM_011534795.3:c.672C>T	XP_011533097.1:p.Tyr224=
XM_011534799.2:c.672C>T	XP_011533101.1:p.Tyr224=
XR_002957338.1:n.876C>T
XR_002957339.1:n.876C>T
XR_941395.2:n.876C>T
NM_006231.4:c.672C>T MANE Select	NP_006222.2:p.Tyr224=