Canonical Allele Identifier: CA2575359623

Gene: POLE

Linked Data

• gnomAD v4: 12-132676507-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676507C>A , CM000674.2:g.132676507C>A	GRCh38
NC_000012.11:g.133253093C>A , CM000674.1:g.133253093C>A	GRCh37
NC_000012.10:g.131763166C>A	NCBI36
NG_033840.1:g.16018G>T , LRG_789:g.16018G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.936+39G>T
ENST00000699982.1:c.755+39G>T
ENST00000699983.1:c.755+39G>T
ENST00000699984.1:c.755+39G>T
ENST00000320574.10:c.909+39G>T MANE Select	ENSP00000322570.5:n.909+39G>T
ENST00000672742.1:c.*403+39G>T	ENSP00000500279.1:n.*403+39G>T
ENST00000320574.9:c.909+39G>T	ENSP00000322570.5:n.909+39G>T
ENST00000535270.5:c.828+39G>T	ENSP00000445753.1:n.828+39G>T
ENST00000537064.5:c.909+39G>T	ENSP00000442578.1:n.909+39G>T
NM_006231.3:c.909+39G>T , LRG_789t1:c.909+39G>T	NP_006222.2:n.909+39G>T
XM_011534795.1:c.909+39G>T	XP_011533097.1:n.909+39G>T
XM_011534796.1:c.780+39G>T	XP_011533098.1:n.780+39G>T
XM_011534797.1:c.8+39G>T	XP_011533099.1:n.8+39G>T
XM_011534799.1:c.909+39G>T	XP_011533101.1:n.909+39G>T
XM_011534800.1:c.909+39G>T	XP_011533102.1:n.909+39G>T
XM_011534801.1:c.909+39G>T	XP_011533103.1:n.909+39G>T
XR_941395.1:n.1118+39G>T
XM_011534795.3:c.909+39G>T	XP_011533097.1:n.909+39G>T
XM_011534797.3:c.8+39G>T	XP_011533099.1:n.8+39G>T
XM_011534799.2:c.909+39G>T	XP_011533101.1:n.909+39G>T
XR_002957338.1:n.1113+39G>T
XR_002957339.1:n.1113+39G>T
XR_941395.2:n.1113+39G>T
NM_006231.4:c.909+39G>T MANE Select	NP_006222.2:n.909+39G>T