Canonical Allele Identifier: CA387358077

Gene: POLE

Linked Data

• gnomAD v4: 12-132673172-G-T
• MyVariant Identifiers: chr12:g.133249758G>T (hg19) ; chr12:g.132673172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673172G>T , CM000674.2:g.132673172G>T	GRCh38
NC_000012.11:g.133249758G>T , CM000674.1:g.133249758G>T	GRCh37
NC_000012.10:g.131759831G>T	NCBI36
NG_033840.1:g.19353C>A , LRG_789:g.19353C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.173C>A
ENST00000545015.2:n.1492C>A
ENST00000699982.1:c.1319C>A
ENST00000699983.1:c.1319C>A
ENST00000699984.1:c.1319C>A
ENST00000320574.10:c.1465C>A MANE Select	ENSP00000322570.5:p.Pro489Thr
ENST00000672742.1:c.*967C>A	ENSP00000500279.1:n.*967C>A
ENST00000320574.9:c.1465C>A	ENSP00000322570.5:p.Pro489Thr
ENST00000535270.5:c.1384C>A	ENSP00000445753.1:p.Pro462Thr
ENST00000535934.2:n.1340C>A
ENST00000537064.5:c.*512C>A	ENSP00000442578.1:n.*512C>A
ENST00000539215.5:n.173C>A
ENST00000545015.1:n.62C>A
NM_006231.3:c.1465C>A , LRG_789t1:c.1465C>A	NP_006222.2:p.Pro489Thr
XM_011534795.1:c.1465C>A	XP_011533097.1:p.Pro489Thr
XM_011534796.1:c.1336C>A	XP_011533098.1:p.Pro446Thr
XM_011534797.1:c.544C>A	XP_011533099.1:p.Pro182Thr
XM_011534798.1:c.127C>A	XP_011533100.1:p.Pro43Thr
XM_011534799.1:c.1465C>A	XP_011533101.1:p.Pro489Thr
XM_011534800.1:c.1465C>A	XP_011533102.1:p.Pro489Thr
XM_011534801.1:c.1465C>A	XP_011533103.1:p.Pro489Thr
XR_941395.1:n.1674C>A
XM_011534795.3:c.1465C>A	XP_011533097.1:p.Pro489Thr
XM_011534797.3:c.544C>A	XP_011533099.1:p.Pro182Thr
XM_011534799.2:c.1465C>A	XP_011533101.1:p.Pro489Thr
XR_002957338.1:n.1669C>A
XR_002957339.1:n.1669C>A
XR_941395.2:n.1669C>A
NM_006231.4:c.1465C>A MANE Select	NP_006222.2:p.Pro489Thr