Canonical Allele Identifier: CA482735492
Gene: POLE HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.133238114T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132661528T>G , CM000674.2:g.132661528T>G GRCh38
NC_000012.11:g.133238114T>G , CM000674.1:g.133238114T>G GRCh37
NC_000012.10:g.131748187T>G NCBI36
NG_033840.1:g.30997A>C , LRG_789:g.30997A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000544870.6:c.484A>C ENSP00000479927.2:p.Arg162=
ENST00000699982.1:c.2717A>C
ENST00000699983.1:c.2717A>C
ENST00000699984.1:c.2717A>C
ENST00000320574.10:c.2863A>C MANE Select ENSP00000322570.5:p.Arg955=
ENST00000672002.1:c.484A>C ENSP00000500233.1:p.Arg162=
ENST00000672742.1:c.*2365A>C ENSP00000500279.1:n.*2365A>C
ENST00000320574.9:c.2863A>C ENSP00000322570.5:p.Arg955=
ENST00000535270.5:c.2782A>C ENSP00000445753.1:p.Arg928=
ENST00000537064.5:c.*1910A>C ENSP00000442578.1:n.*1910A>C
NM_006231.3:c.2863A>C , LRG_789t1:c.2863A>C NP_006222.2:p.Arg955=
XM_011534795.1:c.2863A>C XP_011533097.1:p.Arg955=
XM_011534796.1:c.2734A>C XP_011533098.1:p.Arg912=
XM_011534797.1:c.1942A>C XP_011533099.1:p.Arg648=
XM_011534798.1:c.1525A>C XP_011533100.1:p.Arg509=
XM_011534799.1:c.2863A>C XP_011533101.1:p.Arg955=
XM_011534800.1:c.2863A>C XP_011533102.1:p.Arg955=
XM_011534801.1:c.2863A>C XP_011533103.1:p.Arg955=
XR_941395.1:n.3072A>C
XM_011534795.3:c.2863A>C XP_011533097.1:p.Arg955=
XM_011534797.3:c.1942A>C XP_011533099.1:p.Arg648=
XM_011534799.2:c.2863A>C XP_011533101.1:p.Arg955=
XR_002957338.1:n.3067A>C
XR_002957339.1:n.3067A>C
XR_941395.2:n.3067A>C
NM_006231.4:c.2863A>C MANE Select NP_006222.2:p.Arg955=