Canonical Allele Identifier: CA387358474

Gene: POLE

Linked Data

• ClinVar Variation Id: 576762
• ClinVar RCV Id: RCV003540773
• dbSNP Id: rs1565972540
• MyVariant Identifiers: chr12:g.133249809T>C (hg19) ; chr12:g.132673223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673223T>C , CM000674.2:g.132673223T>C	GRCh38
NC_000012.11:g.133249809T>C , CM000674.1:g.133249809T>C	GRCh37
NC_000012.10:g.131759882T>C	NCBI36
NG_033840.1:g.19302A>G , LRG_789:g.19302A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.122A>G
ENST00000545015.2:n.1441A>G
ENST00000699982.1:c.1268A>G
ENST00000699983.1:c.1268A>G
ENST00000699984.1:c.1268A>G
ENST00000320574.10:c.1414A>G MANE Select	ENSP00000322570.5:p.Lys472Glu
ENST00000672742.1:c.*916A>G	ENSP00000500279.1:n.*916A>G
ENST00000320574.9:c.1414A>G	ENSP00000322570.5:p.Lys472Glu
ENST00000535270.5:c.1333A>G	ENSP00000445753.1:p.Lys445Glu
ENST00000535934.2:n.1289A>G
ENST00000537064.5:c.*461A>G	ENSP00000442578.1:n.*461A>G
ENST00000539215.5:n.122A>G
ENST00000545015.1:n.11A>G
NM_006231.3:c.1414A>G , LRG_789t1:c.1414A>G	NP_006222.2:p.Lys472Glu
XM_011534795.1:c.1414A>G	XP_011533097.1:p.Lys472Glu
XM_011534796.1:c.1285A>G	XP_011533098.1:p.Lys429Glu
XM_011534797.1:c.493A>G	XP_011533099.1:p.Lys165Glu
XM_011534798.1:c.76A>G	XP_011533100.1:p.Lys26Glu
XM_011534799.1:c.1414A>G	XP_011533101.1:p.Lys472Glu
XM_011534800.1:c.1414A>G	XP_011533102.1:p.Lys472Glu
XM_011534801.1:c.1414A>G	XP_011533103.1:p.Lys472Glu
XR_941395.1:n.1623A>G
XM_011534795.3:c.1414A>G	XP_011533097.1:p.Lys472Glu
XM_011534797.3:c.493A>G	XP_011533099.1:p.Lys165Glu
XM_011534799.2:c.1414A>G	XP_011533101.1:p.Lys472Glu
XR_002957338.1:n.1618A>G
XR_002957339.1:n.1618A>G
XR_941395.2:n.1618A>G
NM_006231.4:c.1414A>G MANE Select	NP_006222.2:p.Lys472Glu