Canonical Allele Identifier: CA387364310

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676616T>G , CM000674.2:g.132676616T>G	GRCh38
NC_000012.11:g.133253202T>G , CM000674.1:g.133253202T>G	GRCh37
NC_000012.10:g.131763275T>G	NCBI36
NG_033840.1:g.15909A>C , LRG_789:g.15909A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.839A>C MANE Select	NP_006222.2:p.Lys280Thr
ENST00000320574.10:c.839A>C MANE Select	ENSP00000322570.5:p.Lys280Thr
NM_006231.3:c.839A>C , LRG_789t1:c.839A>C	NP_006222.2:p.Lys280Thr
ENST00000320574.9:c.839A>C	ENSP00000322570.5:p.Lys280Thr
ENST00000535270.5:c.758A>C	ENSP00000445753.1:p.Lys253Thr
ENST00000537064.5:c.839A>C	ENSP00000442578.1:p.Lys280Thr
ENST00000545015.2:n.866A>C
ENST00000672742.1:c.*333A>C	ENSP00000500279.1:n.*333A>C
ENST00000699982.1:c.685A>C
ENST00000699983.1:c.685A>C
ENST00000699984.1:c.685A>C
XM_011534795.1:c.839A>C	XP_011533097.1:p.Lys280Thr
XM_011534795.3:c.839A>C	XP_011533097.1:p.Lys280Thr
XM_011534796.1:c.710A>C	XP_011533098.1:p.Lys237Thr
XM_011534797.1:c.-63A>C	XP_011533099.1:n.-63A>C
XM_011534797.3:c.-63A>C	XP_011533099.1:n.-63A>C
XM_011534799.1:c.839A>C	XP_011533101.1:p.Lys280Thr
XM_011534799.2:c.839A>C	XP_011533101.1:p.Lys280Thr
XM_011534800.1:c.839A>C	XP_011533102.1:p.Lys280Thr
XM_011534801.1:c.839A>C	XP_011533103.1:p.Lys280Thr
XR_002957338.1:n.1043A>C
XR_002957339.1:n.1043A>C
XR_941395.1:n.1048A>C
XR_941395.2:n.1043A>C