Canonical Allele Identifier: CA482722696

Gene: POLE

Linked Data

• dbSNP Id: rs2135996621
• MyVariant Identifiers: chr12:g.133249828G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673242G>C , CM000674.2:g.132673242G>C	GRCh38
NC_000012.11:g.133249828G>C , CM000674.1:g.133249828G>C	GRCh37
NC_000012.10:g.131759901G>C	NCBI36
NG_033840.1:g.19283C>G , LRG_789:g.19283C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.103C>G
ENST00000545015.2:n.1422C>G
ENST00000699982.1:c.1249C>G
ENST00000699983.1:c.1249C>G
ENST00000699984.1:c.1249C>G
ENST00000320574.10:c.1395C>G MANE Select	ENSP00000322570.5:p.Ala465=
ENST00000672742.1:c.*897C>G	ENSP00000500279.1:n.*897C>G
ENST00000320574.9:c.1395C>G	ENSP00000322570.5:p.Ala465=
ENST00000535270.5:c.1314C>G	ENSP00000445753.1:p.Ala438=
ENST00000535934.2:n.1270C>G
ENST00000537064.5:c.*442C>G	ENSP00000442578.1:n.*442C>G
ENST00000539215.5:n.103C>G
NM_006231.3:c.1395C>G , LRG_789t1:c.1395C>G	NP_006222.2:p.Ala465=
XM_011534795.1:c.1395C>G	XP_011533097.1:p.Ala465=
XM_011534796.1:c.1266C>G	XP_011533098.1:p.Ala422=
XM_011534797.1:c.474C>G	XP_011533099.1:p.Ala158=
XM_011534798.1:c.57C>G	XP_011533100.1:p.Ala19=
XM_011534799.1:c.1395C>G	XP_011533101.1:p.Ala465=
XM_011534800.1:c.1395C>G	XP_011533102.1:p.Ala465=
XM_011534801.1:c.1395C>G	XP_011533103.1:p.Ala465=
XR_941395.1:n.1604C>G
XM_011534795.3:c.1395C>G	XP_011533097.1:p.Ala465=
XM_011534797.3:c.474C>G	XP_011533099.1:p.Ala158=
XM_011534799.2:c.1395C>G	XP_011533101.1:p.Ala465=
XR_002957338.1:n.1599C>G
XR_002957339.1:n.1599C>G
XR_941395.2:n.1599C>G
NM_006231.4:c.1395C>G MANE Select	NP_006222.2:p.Ala465=