Canonical Allele Identifier: CA6892837

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643331C>G , CM000674.2:g.132643331C>G	GRCh38
NC_000012.11:g.133219917C>G , CM000674.1:g.133219917C>G	GRCh37
NC_000012.10:g.131729990C>G	NCBI36
NG_033840.1:g.49194G>C , LRG_789:g.49194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2068-1G>C
ENST00000544870.6:c.2118-1G>C	ENSP00000479927.2:n.2118-1G>C
ENST00000699981.1:n.2099-1G>C
ENST00000699982.1:c.4299-1G>C
ENST00000699983.1:c.5003-1G>C
ENST00000699984.1:c.4299-1G>C
ENST00000320574.10:c.4445-1G>C MANE Select	ENSP00000322570.5:n.4445-1G>C
ENST00000672002.1:c.2118-1G>C	ENSP00000500233.1:n.2118-1G>C
ENST00000672742.1:c.*4651-1G>C	ENSP00000500279.1:n.*4651-1G>C
ENST00000320574.9:c.4445-1G>C	ENSP00000322570.5:n.4445-1G>C
ENST00000535270.5:c.4364-1G>C	ENSP00000445753.1:n.4364-1G>C
ENST00000537064.5:c.*4196-1G>C	ENSP00000442578.1:n.*4196-1G>C
NM_006231.3:c.4445-1G>C , LRG_789t1:c.4445-1G>C	NP_006222.2:n.4445-1G>C
XM_011534795.1:c.4445-1G>C	XP_011533097.1:n.4445-1G>C
XM_011534796.1:c.4316-1G>C	XP_011533098.1:n.4316-1G>C
XM_011534797.1:c.3524-1G>C	XP_011533099.1:n.3524-1G>C
XM_011534798.1:c.3107-1G>C	XP_011533100.1:n.3107-1G>C
XM_011534799.1:c.4445-1G>C	XP_011533101.1:n.4445-1G>C
XM_011534800.1:c.4445-1G>C	XP_011533102.1:n.4445-1G>C
XM_011534802.1:c.1433-1G>C	XP_011533104.1:n.1433-1G>C
XR_941395.1:n.4703-1G>C
XM_011534795.3:c.4445-1G>C	XP_011533097.1:n.4445-1G>C
XM_011534797.3:c.3524-1G>C	XP_011533099.1:n.3524-1G>C
XM_011534799.2:c.4445-1G>C	XP_011533101.1:n.4445-1G>C
XM_011534802.3:c.1433-1G>C	XP_011533104.1:n.1433-1G>C
XR_002957338.1:n.4649-1G>C
XR_002957339.1:n.4649-1G>C
XR_941395.2:n.4698-1G>C
NM_006231.4:c.4445-1G>C MANE Select	NP_006222.2:n.4445-1G>C