Canonical Allele Identifier: CA2727554190
Gene: POLE HGNC NCBI

Linked Data

dbSNP Id: rs2043055397

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132676512C>A , CM000674.2:g.132676512C>A GRCh38
NC_000012.11:g.133253098C>A , CM000674.1:g.133253098C>A GRCh37
NC_000012.10:g.131763171C>A NCBI36
NG_033840.1:g.16013G>T , LRG_789:g.16013G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545015.2:n.936+34G>T
ENST00000699982.1:c.755+34G>T
ENST00000699983.1:c.755+34G>T
ENST00000699984.1:c.755+34G>T
ENST00000320574.10:c.909+34G>T MANE Select ENSP00000322570.5:n.909+34G>T
ENST00000672742.1:c.*403+34G>T ENSP00000500279.1:n.*403+34G>T
ENST00000320574.9:c.909+34G>T ENSP00000322570.5:n.909+34G>T
ENST00000535270.5:c.828+34G>T ENSP00000445753.1:n.828+34G>T
ENST00000537064.5:c.909+34G>T ENSP00000442578.1:n.909+34G>T
NM_006231.3:c.909+34G>T , LRG_789t1:c.909+34G>T NP_006222.2:n.909+34G>T
XM_011534795.1:c.909+34G>T XP_011533097.1:n.909+34G>T
XM_011534796.1:c.780+34G>T XP_011533098.1:n.780+34G>T
XM_011534797.1:c.8+34G>T XP_011533099.1:n.8+34G>T
XM_011534799.1:c.909+34G>T XP_011533101.1:n.909+34G>T
XM_011534800.1:c.909+34G>T XP_011533102.1:n.909+34G>T
XM_011534801.1:c.909+34G>T XP_011533103.1:n.909+34G>T
XR_941395.1:n.1118+34G>T
XM_011534795.3:c.909+34G>T XP_011533097.1:n.909+34G>T
XM_011534797.3:c.8+34G>T XP_011533099.1:n.8+34G>T
XM_011534799.2:c.909+34G>T XP_011533101.1:n.909+34G>T
XR_002957338.1:n.1113+34G>T
XR_002957339.1:n.1113+34G>T
XR_941395.2:n.1113+34G>T
NM_006231.4:c.909+34G>T MANE Select NP_006222.2:n.909+34G>T