Canonical Allele Identifier: CA387356220

Gene: POLE

Linked Data

• ClinVar Variation Id: 2693969
• ClinVar RCV Id: RCV003543931
• MyVariant Identifiers: chr12:g.133248809A>C (hg19) ; chr12:g.132672223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672223A>C , CM000674.2:g.132672223A>C	GRCh38
NC_000012.11:g.133248809A>C , CM000674.1:g.133248809A>C	GRCh37
NC_000012.10:g.131758882A>C	NCBI36
NG_033840.1:g.20302T>G , LRG_789:g.20302T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000539215.6:c.541T>G
ENST00000699982.1:c.1640T>G
ENST00000699983.1:c.1640T>G
ENST00000699984.1:c.1640T>G
ENST00000320574.10:c.1786T>G MANE Select	ENSP00000322570.5:p.Phe596Val
ENST00000672742.1:c.*1288T>G	ENSP00000500279.1:n.*1288T>G
ENST00000320574.9:c.1786T>G	ENSP00000322570.5:p.Phe596Val
ENST00000535270.5:c.1705T>G	ENSP00000445753.1:p.Phe569Val
ENST00000537064.5:c.*833T>G	ENSP00000442578.1:n.*833T>G
NM_006231.3:c.1786T>G , LRG_789t1:c.1786T>G	NP_006222.2:p.Phe596Val
XM_011534795.1:c.1786T>G	XP_011533097.1:p.Phe596Val
XM_011534796.1:c.1657T>G	XP_011533098.1:p.Phe553Val
XM_011534797.1:c.865T>G	XP_011533099.1:p.Phe289Val
XM_011534798.1:c.448T>G	XP_011533100.1:p.Phe150Val
XM_011534799.1:c.1786T>G	XP_011533101.1:p.Phe596Val
XM_011534800.1:c.1786T>G	XP_011533102.1:p.Phe596Val
XM_011534801.1:c.1786T>G	XP_011533103.1:p.Phe596Val
XR_941395.1:n.1995T>G
XM_011534795.3:c.1786T>G	XP_011533097.1:p.Phe596Val
XM_011534797.3:c.865T>G	XP_011533099.1:p.Phe289Val
XM_011534799.2:c.1786T>G	XP_011533101.1:p.Phe596Val
XR_002957338.1:n.1990T>G
XR_002957339.1:n.1990T>G
XR_941395.2:n.1990T>G
NM_006231.4:c.1786T>G MANE Select	NP_006222.2:p.Phe596Val