Canonical Allele Identifier: CA2622061192

Gene: POLE

Linked Data

• gnomAD v4: 12-132676517-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676517A>T , CM000674.2:g.132676517A>T	GRCh38
NC_000012.11:g.133253103A>T , CM000674.1:g.133253103A>T	GRCh37
NC_000012.10:g.131763176A>T	NCBI36
NG_033840.1:g.16008T>A , LRG_789:g.16008T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.936+29T>A
ENST00000699982.1:c.755+29T>A
ENST00000699983.1:c.755+29T>A
ENST00000699984.1:c.755+29T>A
ENST00000320574.10:c.909+29T>A MANE Select	ENSP00000322570.5:n.909+29T>A
ENST00000672742.1:c.*403+29T>A	ENSP00000500279.1:n.*403+29T>A
ENST00000320574.9:c.909+29T>A	ENSP00000322570.5:n.909+29T>A
ENST00000535270.5:c.828+29T>A	ENSP00000445753.1:n.828+29T>A
ENST00000537064.5:c.909+29T>A	ENSP00000442578.1:n.909+29T>A
NM_006231.3:c.909+29T>A , LRG_789t1:c.909+29T>A	NP_006222.2:n.909+29T>A
XM_011534795.1:c.909+29T>A	XP_011533097.1:n.909+29T>A
XM_011534796.1:c.780+29T>A	XP_011533098.1:n.780+29T>A
XM_011534797.1:c.8+29T>A	XP_011533099.1:n.8+29T>A
XM_011534799.1:c.909+29T>A	XP_011533101.1:n.909+29T>A
XM_011534800.1:c.909+29T>A	XP_011533102.1:n.909+29T>A
XM_011534801.1:c.909+29T>A	XP_011533103.1:n.909+29T>A
XR_941395.1:n.1118+29T>A
XM_011534795.3:c.909+29T>A	XP_011533097.1:n.909+29T>A
XM_011534797.3:c.8+29T>A	XP_011533099.1:n.8+29T>A
XM_011534799.2:c.909+29T>A	XP_011533101.1:n.909+29T>A
XR_002957338.1:n.1113+29T>A
XR_002957339.1:n.1113+29T>A
XR_941395.2:n.1113+29T>A
NM_006231.4:c.909+29T>A MANE Select	NP_006222.2:n.909+29T>A