Canonical Allele Identifier: CA6893966

Gene: POLE

Linked Data

• ClinVar Variation Id: 240392
• ClinVar RCV Id: RCV000679600 ; RCV000433385 ; RCV001355490 ; RCV001080853 ; RCV000568434
• dbSNP Id: rs368303888
• ExAC: 12:133249818 G / A
• gnomAD v2: 12-133249818-G-A
• gnomAD v3: 12-132673232-G-A
• gnomAD v4: 12-132673232-G-A
• COSMIC: COSM246702
• MyVariant Identifiers: chr12:g.133249818G>A (hg19) ; chr12:g.132673232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673232G>A , CM000674.2:g.132673232G>A	GRCh38
NC_000012.11:g.133249818G>A , CM000674.1:g.133249818G>A	GRCh37
NC_000012.10:g.131759891G>A	NCBI36
NG_033840.1:g.19293C>T , LRG_789:g.19293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.113C>T
ENST00000545015.2:n.1432C>T
ENST00000699982.1:c.1259C>T
ENST00000699983.1:c.1259C>T
ENST00000699984.1:c.1259C>T
ENST00000320574.10:c.1405C>T MANE Select	ENSP00000322570.5:p.Leu469=
ENST00000672742.1:c.*907C>T	ENSP00000500279.1:n.*907C>T
ENST00000320574.9:c.1405C>T	ENSP00000322570.5:p.Leu469=
ENST00000535270.5:c.1324C>T	ENSP00000445753.1:p.Leu442=
ENST00000535934.2:n.1280C>T
ENST00000537064.5:c.*452C>T	ENSP00000442578.1:n.*452C>T
ENST00000539215.5:n.113C>T
ENST00000545015.1:n.2C>T
NM_006231.3:c.1405C>T , LRG_789t1:c.1405C>T	NP_006222.2:p.Leu469=
XM_011534795.1:c.1405C>T	XP_011533097.1:p.Leu469=
XM_011534796.1:c.1276C>T	XP_011533098.1:p.Leu426=
XM_011534797.1:c.484C>T	XP_011533099.1:p.Leu162=
XM_011534798.1:c.67C>T	XP_011533100.1:p.Leu23=
XM_011534799.1:c.1405C>T	XP_011533101.1:p.Leu469=
XM_011534800.1:c.1405C>T	XP_011533102.1:p.Leu469=
XM_011534801.1:c.1405C>T	XP_011533103.1:p.Leu469=
XR_941395.1:n.1614C>T
XM_011534795.3:c.1405C>T	XP_011533097.1:p.Leu469=
XM_011534797.3:c.484C>T	XP_011533099.1:p.Leu162=
XM_011534799.2:c.1405C>T	XP_011533101.1:p.Leu469=
XR_002957338.1:n.1609C>T
XR_002957339.1:n.1609C>T
XR_941395.2:n.1609C>T
NM_006231.4:c.1405C>T MANE Select	NP_006222.2:p.Leu469=