Canonical Allele Identifier: CA387358076

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249758G>C (hg19) ; chr12:g.132673172G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.173C>G
ENST00000545015.2:n.1492C>G
ENST00000699982.1:c.1319C>G
ENST00000699983.1:c.1319C>G
ENST00000699984.1:c.1319C>G
ENST00000320574.10:c.1465C>G MANE Select	ENSP00000322570.5:p.Pro489Ala
ENST00000672742.1:c.*967C>G	ENSP00000500279.1:n.*967C>G
ENST00000320574.9:c.1465C>G	ENSP00000322570.5:p.Pro489Ala
ENST00000535270.5:c.1384C>G	ENSP00000445753.1:p.Pro462Ala
ENST00000535934.2:n.1340C>G
ENST00000537064.5:c.*512C>G	ENSP00000442578.1:n.*512C>G
ENST00000539215.5:n.173C>G
ENST00000545015.1:n.62C>G
NM_006231.3:c.1465C>G , LRG_789t1:c.1465C>G	NP_006222.2:p.Pro489Ala
XM_011534795.1:c.1465C>G	XP_011533097.1:p.Pro489Ala
XM_011534796.1:c.1336C>G	XP_011533098.1:p.Pro446Ala
XM_011534797.1:c.544C>G	XP_011533099.1:p.Pro182Ala
XM_011534798.1:c.127C>G	XP_011533100.1:p.Pro43Ala
XM_011534799.1:c.1465C>G	XP_011533101.1:p.Pro489Ala
XM_011534800.1:c.1465C>G	XP_011533102.1:p.Pro489Ala
XM_011534801.1:c.1465C>G	XP_011533103.1:p.Pro489Ala
XR_941395.1:n.1674C>G
XM_011534795.3:c.1465C>G	XP_011533097.1:p.Pro489Ala
XM_011534797.3:c.544C>G	XP_011533099.1:p.Pro182Ala
XM_011534799.2:c.1465C>G	XP_011533101.1:p.Pro489Ala
XR_002957338.1:n.1669C>G
XR_002957339.1:n.1669C>G
XR_941395.2:n.1669C>G
NM_006231.4:c.1465C>G MANE Select	NP_006222.2:p.Pro489Ala