Canonical Allele Identifier: CA387358692

Gene: POLE

Linked Data

• dbSNP Id: rs2135996751
• MyVariant Identifiers: chr12:g.133249838T>C (hg19) ; chr12:g.132673252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673252T>C , CM000674.2:g.132673252T>C	GRCh38
NC_000012.11:g.133249838T>C , CM000674.1:g.133249838T>C	GRCh37
NC_000012.10:g.131759911T>C	NCBI36
NG_033840.1:g.19273A>G , LRG_789:g.19273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.93A>G
ENST00000545015.2:n.1412A>G
ENST00000699982.1:c.1239A>G
ENST00000699983.1:c.1239A>G
ENST00000699984.1:c.1239A>G
ENST00000320574.10:c.1385A>G MANE Select	ENSP00000322570.5:p.Asp462Gly
ENST00000672742.1:c.*887A>G	ENSP00000500279.1:n.*887A>G
ENST00000320574.9:c.1385A>G	ENSP00000322570.5:p.Asp462Gly
ENST00000535270.5:c.1304A>G	ENSP00000445753.1:p.Asp435Gly
ENST00000535934.2:n.1260A>G
ENST00000537064.5:c.*432A>G	ENSP00000442578.1:n.*432A>G
ENST00000539215.5:n.93A>G
NM_006231.3:c.1385A>G , LRG_789t1:c.1385A>G	NP_006222.2:p.Asp462Gly
XM_011534795.1:c.1385A>G	XP_011533097.1:p.Asp462Gly
XM_011534796.1:c.1256A>G	XP_011533098.1:p.Asp419Gly
XM_011534797.1:c.464A>G	XP_011533099.1:p.Asp155Gly
XM_011534798.1:c.47A>G	XP_011533100.1:p.Asp16Gly
XM_011534799.1:c.1385A>G	XP_011533101.1:p.Asp462Gly
XM_011534800.1:c.1385A>G	XP_011533102.1:p.Asp462Gly
XM_011534801.1:c.1385A>G	XP_011533103.1:p.Asp462Gly
XR_941395.1:n.1594A>G
XM_011534795.3:c.1385A>G	XP_011533097.1:p.Asp462Gly
XM_011534797.3:c.464A>G	XP_011533099.1:p.Asp155Gly
XM_011534799.2:c.1385A>G	XP_011533101.1:p.Asp462Gly
XR_002957338.1:n.1589A>G
XR_002957339.1:n.1589A>G
XR_941395.2:n.1589A>G
NM_006231.4:c.1385A>G MANE Select	NP_006222.2:p.Asp462Gly