Canonical Allele Identifier: CA6893975

Gene: POLE

Linked Data

• ClinVar Variation Id: 385293
• ClinVar RCV Id: RCV000418076 ; RCV000563997 ; RCV003654271
• dbSNP Id: rs753216372
• ExAC: 12:133249852 C / T
• gnomAD v2: 12-133249852-C-T
• gnomAD v3: 12-132673266-C-T
• gnomAD v4: 12-132673266-C-T
• COSMIC: COSM1128643 ; COSM1128644
• MyVariant Identifiers: chr12:g.133249852C>T (hg19) ; chr12:g.132673266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673266C>T , CM000674.2:g.132673266C>T	GRCh38
NC_000012.11:g.133249852C>T , CM000674.1:g.133249852C>T	GRCh37
NC_000012.10:g.131759925C>T	NCBI36
NG_033840.1:g.19259G>A , LRG_789:g.19259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.79G>A
ENST00000545015.2:n.1398G>A
ENST00000699982.1:c.1225G>A
ENST00000699983.1:c.1225G>A
ENST00000699984.1:c.1225G>A
ENST00000320574.10:c.1371G>A MANE Select	ENSP00000322570.5:p.Thr457=
ENST00000672742.1:c.*873G>A	ENSP00000500279.1:n.*873G>A
ENST00000320574.9:c.1371G>A	ENSP00000322570.5:p.Thr457=
ENST00000535270.5:c.1290G>A	ENSP00000445753.1:p.Thr430=
ENST00000535934.2:n.1246G>A
ENST00000537064.5:c.*418G>A	ENSP00000442578.1:n.*418G>A
ENST00000539215.5:n.79G>A
NM_006231.3:c.1371G>A , LRG_789t1:c.1371G>A	NP_006222.2:p.Thr457=
XM_011534795.1:c.1371G>A	XP_011533097.1:p.Thr457=
XM_011534796.1:c.1242G>A	XP_011533098.1:p.Thr414=
XM_011534797.1:c.450G>A	XP_011533099.1:p.Thr150=
XM_011534798.1:c.33G>A	XP_011533100.1:p.Thr11=
XM_011534799.1:c.1371G>A	XP_011533101.1:p.Thr457=
XM_011534800.1:c.1371G>A	XP_011533102.1:p.Thr457=
XM_011534801.1:c.1371G>A	XP_011533103.1:p.Thr457=
XR_941395.1:n.1580G>A
XM_011534795.3:c.1371G>A	XP_011533097.1:p.Thr457=
XM_011534797.3:c.450G>A	XP_011533099.1:p.Thr150=
XM_011534799.2:c.1371G>A	XP_011533101.1:p.Thr457=
XR_002957338.1:n.1575G>A
XR_002957339.1:n.1575G>A
XR_941395.2:n.1575G>A
NM_006231.4:c.1371G>A MANE Select	NP_006222.2:p.Thr457=