Canonical Allele Identifier: CA10583018

Gene: POLE

Linked Data

• ClinVar Variation Id: 240390
• ClinVar RCV Id: RCV000230755 ; RCV000569982 ; RCV001550596
• dbSNP Id: rs878854842
• gnomAD v3: 12-132673267-G-A
• gnomAD v4: 12-132673267-G-A
• COSMIC: COSM5031063
• MyVariant Identifiers: chr12:g.133249853G>A (hg19) ; chr12:g.132673267G>A (hg38)
• PubMed: PMID:25124163

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673267G>A , CM000674.2:g.132673267G>A	GRCh38
NC_000012.11:g.133249853G>A , CM000674.1:g.133249853G>A	GRCh37
NC_000012.10:g.131759926G>A	NCBI36
NG_033840.1:g.19258C>T , LRG_789:g.19258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.78C>T
ENST00000545015.2:n.1397C>T
ENST00000699982.1:c.1224C>T
ENST00000699983.1:c.1224C>T
ENST00000699984.1:c.1224C>T
ENST00000320574.10:c.1370C>T MANE Select	ENSP00000322570.5:p.Thr457Met
ENST00000672742.1:c.*872C>T	ENSP00000500279.1:n.*872C>T
ENST00000320574.9:c.1370C>T	ENSP00000322570.5:p.Thr457Met
ENST00000535270.5:c.1289C>T	ENSP00000445753.1:p.Thr430Met
ENST00000535934.2:n.1245C>T
ENST00000537064.5:c.*417C>T	ENSP00000442578.1:n.*417C>T
ENST00000539215.5:n.78C>T
NM_006231.3:c.1370C>T , LRG_789t1:c.1370C>T	NP_006222.2:p.Thr457Met
XM_011534795.1:c.1370C>T	XP_011533097.1:p.Thr457Met
XM_011534796.1:c.1241C>T	XP_011533098.1:p.Thr414Met
XM_011534797.1:c.449C>T	XP_011533099.1:p.Thr150Met
XM_011534798.1:c.32C>T	XP_011533100.1:p.Thr11Met
XM_011534799.1:c.1370C>T	XP_011533101.1:p.Thr457Met
XM_011534800.1:c.1370C>T	XP_011533102.1:p.Thr457Met
XM_011534801.1:c.1370C>T	XP_011533103.1:p.Thr457Met
XR_941395.1:n.1579C>T
XM_011534795.3:c.1370C>T	XP_011533097.1:p.Thr457Met
XM_011534797.3:c.449C>T	XP_011533099.1:p.Thr150Met
XM_011534799.2:c.1370C>T	XP_011533101.1:p.Thr457Met
XR_002957338.1:n.1574C>T
XR_002957339.1:n.1574C>T
XR_941395.2:n.1574C>T
NM_006231.4:c.1370C>T MANE Select	NP_006222.2:p.Thr457Met