Canonical Allele Identifier: CA6893972

Gene: POLE

Linked Data

• ClinVar Variation Id: 405748
• ClinVar RCV Id: RCV000462740 ; RCV000574452 ; RCV001584135
• dbSNP Id: rs753586583
• ExAC: 12:133249845 C / T
• gnomAD v2: 12-133249845-C-T
• gnomAD v3: 12-132673259-C-T
• gnomAD v4: 12-132673259-C-T
• MyVariant Identifiers: chr12:g.133249845C>T (hg19) ; chr12:g.132673259C>T (hg38)
• PubMed: PMID:26251183

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673259C>T , CM000674.2:g.132673259C>T	GRCh38
NC_000012.11:g.133249845C>T , CM000674.1:g.133249845C>T	GRCh37
NC_000012.10:g.131759918C>T	NCBI36
NG_033840.1:g.19266G>A , LRG_789:g.19266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.86G>A
ENST00000545015.2:n.1405G>A
ENST00000699982.1:c.1232G>A
ENST00000699983.1:c.1232G>A
ENST00000699984.1:c.1232G>A
ENST00000320574.10:c.1378G>A MANE Select	ENSP00000322570.5:p.Val460Met
ENST00000672742.1:c.*880G>A	ENSP00000500279.1:n.*880G>A
ENST00000320574.9:c.1378G>A	ENSP00000322570.5:p.Val460Met
ENST00000535270.5:c.1297G>A	ENSP00000445753.1:p.Val433Met
ENST00000535934.2:n.1253G>A
ENST00000537064.5:c.*425G>A	ENSP00000442578.1:n.*425G>A
ENST00000539215.5:n.86G>A
NM_006231.3:c.1378G>A , LRG_789t1:c.1378G>A	NP_006222.2:p.Val460Met
XM_011534795.1:c.1378G>A	XP_011533097.1:p.Val460Met
XM_011534796.1:c.1249G>A	XP_011533098.1:p.Val417Met
XM_011534797.1:c.457G>A	XP_011533099.1:p.Val153Met
XM_011534798.1:c.40G>A	XP_011533100.1:p.Val14Met
XM_011534799.1:c.1378G>A	XP_011533101.1:p.Val460Met
XM_011534800.1:c.1378G>A	XP_011533102.1:p.Val460Met
XM_011534801.1:c.1378G>A	XP_011533103.1:p.Val460Met
XR_941395.1:n.1587G>A
XM_011534795.3:c.1378G>A	XP_011533097.1:p.Val460Met
XM_011534797.3:c.457G>A	XP_011533099.1:p.Val153Met
XM_011534799.2:c.1378G>A	XP_011533101.1:p.Val460Met
XR_002957338.1:n.1582G>A
XR_002957339.1:n.1582G>A
XR_941395.2:n.1582G>A
NM_006231.4:c.1378G>A MANE Select	NP_006222.2:p.Val460Met