Canonical Allele Identifier: CA482722758

Gene: POLE

Linked Data

• ClinVar Variation Id: 1568144
• ClinVar RCV Id: RCV003773741
• dbSNP Id: rs2042973001
• MyVariant Identifiers: chr12:g.133249861A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673275A>C , CM000674.2:g.132673275A>C	GRCh38
NC_000012.11:g.133249861A>C , CM000674.1:g.133249861A>C	GRCh37
NC_000012.10:g.131759934A>C	NCBI36
NG_033840.1:g.19250T>G , LRG_789:g.19250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.70T>G
ENST00000545015.2:n.1389T>G
ENST00000699982.1:c.1216T>G
ENST00000699983.1:c.1216T>G
ENST00000699984.1:c.1216T>G
ENST00000320574.10:c.1362T>G MANE Select	ENSP00000322570.5:p.Thr454=
ENST00000672742.1:c.*864T>G	ENSP00000500279.1:n.*864T>G
ENST00000320574.9:c.1362T>G	ENSP00000322570.5:p.Thr454=
ENST00000535270.5:c.1281T>G	ENSP00000445753.1:p.Thr427=
ENST00000535934.2:n.1237T>G
ENST00000537064.5:c.*409T>G	ENSP00000442578.1:n.*409T>G
ENST00000539215.5:n.70T>G
NM_006231.3:c.1362T>G , LRG_789t1:c.1362T>G	NP_006222.2:p.Thr454=
XM_011534795.1:c.1362T>G	XP_011533097.1:p.Thr454=
XM_011534796.1:c.1233T>G	XP_011533098.1:p.Thr411=
XM_011534797.1:c.441T>G	XP_011533099.1:p.Thr147=
XM_011534798.1:c.24T>G	XP_011533100.1:p.Thr8=
XM_011534799.1:c.1362T>G	XP_011533101.1:p.Thr454=
XM_011534800.1:c.1362T>G	XP_011533102.1:p.Thr454=
XM_011534801.1:c.1362T>G	XP_011533103.1:p.Thr454=
XR_941395.1:n.1571T>G
XM_011534795.3:c.1362T>G	XP_011533097.1:p.Thr454=
XM_011534797.3:c.441T>G	XP_011533099.1:p.Thr147=
XM_011534799.2:c.1362T>G	XP_011533101.1:p.Thr454=
XR_002957338.1:n.1566T>G
XR_002957339.1:n.1566T>G
XR_941395.2:n.1566T>G
NM_006231.4:c.1362T>G MANE Select	NP_006222.2:p.Thr454=