Canonical Allele Identifier: CA387358445

Gene: POLE

Linked Data

• ClinVar Variation Id: 1804513
• ClinVar RCV Id: RCV002469814
• dbSNP Id: rs776977459
• MyVariant Identifiers: chr12:g.133249807C>G (hg19) ; chr12:g.132673221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673221C>G , CM000674.2:g.132673221C>G	GRCh38
NC_000012.11:g.133249807C>G , CM000674.1:g.133249807C>G	GRCh37
NC_000012.10:g.131759880C>G	NCBI36
NG_033840.1:g.19304G>C , LRG_789:g.19304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.124G>C
ENST00000545015.2:n.1443G>C
ENST00000699982.1:c.1270G>C
ENST00000699983.1:c.1270G>C
ENST00000699984.1:c.1270G>C
ENST00000320574.10:c.1416G>C MANE Select	ENSP00000322570.5:p.Lys472Asn
ENST00000672742.1:c.*918G>C	ENSP00000500279.1:n.*918G>C
ENST00000320574.9:c.1416G>C	ENSP00000322570.5:p.Lys472Asn
ENST00000535270.5:c.1335G>C	ENSP00000445753.1:p.Lys445Asn
ENST00000535934.2:n.1291G>C
ENST00000537064.5:c.*463G>C	ENSP00000442578.1:n.*463G>C
ENST00000539215.5:n.124G>C
ENST00000545015.1:n.13G>C
NM_006231.3:c.1416G>C , LRG_789t1:c.1416G>C	NP_006222.2:p.Lys472Asn
XM_011534795.1:c.1416G>C	XP_011533097.1:p.Lys472Asn
XM_011534796.1:c.1287G>C	XP_011533098.1:p.Lys429Asn
XM_011534797.1:c.495G>C	XP_011533099.1:p.Lys165Asn
XM_011534798.1:c.78G>C	XP_011533100.1:p.Lys26Asn
XM_011534799.1:c.1416G>C	XP_011533101.1:p.Lys472Asn
XM_011534800.1:c.1416G>C	XP_011533102.1:p.Lys472Asn
XM_011534801.1:c.1416G>C	XP_011533103.1:p.Lys472Asn
XR_941395.1:n.1625G>C
XM_011534795.3:c.1416G>C	XP_011533097.1:p.Lys472Asn
XM_011534797.3:c.495G>C	XP_011533099.1:p.Lys165Asn
XM_011534799.2:c.1416G>C	XP_011533101.1:p.Lys472Asn
XR_002957338.1:n.1620G>C
XR_002957339.1:n.1620G>C
XR_941395.2:n.1620G>C
NM_006231.4:c.1416G>C MANE Select	NP_006222.2:p.Lys472Asn