Canonical Allele Identifier: CA6892780

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643006C>A , CM000674.2:g.132643006C>A	GRCh38
NC_000012.11:g.133219592C>A , CM000674.1:g.133219592C>A	GRCh37
NC_000012.10:g.131729665C>A	NCBI36
NG_033840.1:g.49519G>T , LRG_789:g.49519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2175-10G>T
ENST00000544870.6:c.2225-10G>T	ENSP00000479927.2:n.2225-10G>T
ENST00000699981.1:n.2206-10G>T
ENST00000699982.1:c.4406-10G>T
ENST00000699983.1:c.5110-10G>T
ENST00000699984.1:c.4406-10G>T
ENST00000320574.10:c.4552-10G>T MANE Select	ENSP00000322570.5:n.4552-10G>T
ENST00000672002.1:c.2225-10G>T	ENSP00000500233.1:n.2225-10G>T
ENST00000672742.1:c.*4758-10G>T	ENSP00000500279.1:n.*4758-10G>T
ENST00000320574.9:c.4552-10G>T	ENSP00000322570.5:n.4552-10G>T
ENST00000535270.5:c.4471-10G>T	ENSP00000445753.1:n.4471-10G>T
ENST00000537064.5:c.*4303-10G>T	ENSP00000442578.1:n.*4303-10G>T
NM_006231.3:c.4552-10G>T , LRG_789t1:c.4552-10G>T	NP_006222.2:n.4552-10G>T
XM_011534795.1:c.4552-10G>T	XP_011533097.1:n.4552-10G>T
XM_011534796.1:c.4423-10G>T	XP_011533098.1:n.4423-10G>T
XM_011534797.1:c.3631-10G>T	XP_011533099.1:n.3631-10G>T
XM_011534798.1:c.3214-10G>T	XP_011533100.1:n.3214-10G>T
XM_011534799.1:c.4552-10G>T	XP_011533101.1:n.4552-10G>T
XM_011534800.1:c.4552-10G>T	XP_011533102.1:n.4552-10G>T
XM_011534802.1:c.1540-10G>T	XP_011533104.1:n.1540-10G>T
XR_941395.1:n.4810-10G>T
XM_011534795.3:c.4552-10G>T	XP_011533097.1:n.4552-10G>T
XM_011534797.3:c.3631-10G>T	XP_011533099.1:n.3631-10G>T
XM_011534799.2:c.4552-10G>T	XP_011533101.1:n.4552-10G>T
XM_011534802.3:c.1540-10G>T	XP_011533104.1:n.1540-10G>T
XR_002957338.1:n.4756-10G>T
XR_002957339.1:n.4756-10G>T
XR_941395.2:n.4805-10G>T
NM_006231.4:c.4552-10G>T MANE Select	NP_006222.2:n.4552-10G>T