Canonical Allele Identifier: CA10584410

Gene: POLE

Linked Data

• ClinVar Variation Id: 246436
• ClinVar RCV Id: RCV000235382
• dbSNP Id: rs879254259
• MyVariant Identifiers: chr12:g.133249851A>T (hg19) ; chr12:g.132673265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673265A>T , CM000674.2:g.132673265A>T	GRCh38
NC_000012.11:g.133249851A>T , CM000674.1:g.133249851A>T	GRCh37
NC_000012.10:g.131759924A>T	NCBI36
NG_033840.1:g.19260T>A , LRG_789:g.19260T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.80T>A
ENST00000545015.2:n.1399T>A
ENST00000699982.1:c.1226T>A
ENST00000699983.1:c.1226T>A
ENST00000699984.1:c.1226T>A
ENST00000320574.10:c.1372T>A MANE Select	ENSP00000322570.5:p.Tyr458Asn
ENST00000672742.1:c.*874T>A	ENSP00000500279.1:n.*874T>A
ENST00000320574.9:c.1372T>A	ENSP00000322570.5:p.Tyr458Asn
ENST00000535270.5:c.1291T>A	ENSP00000445753.1:p.Tyr431Asn
ENST00000535934.2:n.1247T>A
ENST00000537064.5:c.*419T>A	ENSP00000442578.1:n.*419T>A
ENST00000539215.5:n.80T>A
NM_006231.3:c.1372T>A , LRG_789t1:c.1372T>A	NP_006222.2:p.Tyr458Asn
XM_011534795.1:c.1372T>A	XP_011533097.1:p.Tyr458Asn
XM_011534796.1:c.1243T>A	XP_011533098.1:p.Tyr415Asn
XM_011534797.1:c.451T>A	XP_011533099.1:p.Tyr151Asn
XM_011534798.1:c.34T>A	XP_011533100.1:p.Tyr12Asn
XM_011534799.1:c.1372T>A	XP_011533101.1:p.Tyr458Asn
XM_011534800.1:c.1372T>A	XP_011533102.1:p.Tyr458Asn
XM_011534801.1:c.1372T>A	XP_011533103.1:p.Tyr458Asn
XR_941395.1:n.1581T>A
XM_011534795.3:c.1372T>A	XP_011533097.1:p.Tyr458Asn
XM_011534797.3:c.451T>A	XP_011533099.1:p.Tyr151Asn
XM_011534799.2:c.1372T>A	XP_011533101.1:p.Tyr458Asn
XR_002957338.1:n.1576T>A
XR_002957339.1:n.1576T>A
XR_941395.2:n.1576T>A
NM_006231.4:c.1372T>A MANE Select	NP_006222.2:p.Tyr458Asn