Canonical Allele Identifier: CA6894158

Gene: POLE

Linked Data

• ClinVar Variation Id: 405725
• ClinVar RCV Id: RCV002465654
• dbSNP Id: rs568483856
• ExAC: 12:133253191 T / C
• gnomAD v2: 12-133253191-T-C
• gnomAD v3: 12-132676605-T-C
• gnomAD v4: 12-132676605-T-C
• MyVariant Identifiers: chr12:g.133253191T>C (hg19) ; chr12:g.132676605T>C (hg38)
• PubMed: PMID:25938944 ; PMID:28404093

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676605T>C , CM000674.2:g.132676605T>C	GRCh38
NC_000012.11:g.133253191T>C , CM000674.1:g.133253191T>C	GRCh37
NC_000012.10:g.131763264T>C	NCBI36
NG_033840.1:g.15920A>G , LRG_789:g.15920A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.877A>G
ENST00000699982.1:c.696A>G
ENST00000699983.1:c.696A>G
ENST00000699984.1:c.696A>G
ENST00000320574.10:c.850A>G MANE Select	ENSP00000322570.5:p.Lys284Glu
ENST00000672742.1:c.*344A>G	ENSP00000500279.1:n.*344A>G
ENST00000320574.9:c.850A>G	ENSP00000322570.5:p.Lys284Glu
ENST00000535270.5:c.769A>G	ENSP00000445753.1:p.Lys257Glu
ENST00000537064.5:c.850A>G	ENSP00000442578.1:p.Lys284Glu
NM_006231.3:c.850A>G , LRG_789t1:c.850A>G	NP_006222.2:p.Lys284Glu
XM_011534795.1:c.850A>G	XP_011533097.1:p.Lys284Glu
XM_011534796.1:c.721A>G	XP_011533098.1:p.Lys241Glu
XM_011534797.1:c.-52A>G	XP_011533099.1:n.-52A>G
XM_011534799.1:c.850A>G	XP_011533101.1:p.Lys284Glu
XM_011534800.1:c.850A>G	XP_011533102.1:p.Lys284Glu
XM_011534801.1:c.850A>G	XP_011533103.1:p.Lys284Glu
XR_941395.1:n.1059A>G
XM_011534795.3:c.850A>G	XP_011533097.1:p.Lys284Glu
XM_011534797.3:c.-52A>G	XP_011533099.1:n.-52A>G
XM_011534799.2:c.850A>G	XP_011533101.1:p.Lys284Glu
XR_002957338.1:n.1054A>G
XR_002957339.1:n.1054A>G
XR_941395.2:n.1054A>G
NM_006231.4:c.850A>G MANE Select	NP_006222.2:p.Lys284Glu