Canonical Allele Identifier: CA6894364

Gene: POLE

Linked Data

• ClinVar Variation Id: 389081
• ClinVar RCV Id: RCV000759284 ; RCV001084332 ; RCV002268053 ; RCV002323641 ; RCV002506064
• dbSNP Id: rs770759936
• ExAC: 12:133256776 A / G
• gnomAD v2: 12-133256776-A-G
• gnomAD v3: 12-132680190-A-G
• gnomAD v4: 12-132680190-A-G
• MyVariant Identifiers: chr12:g.133256776A>G (hg19) ; chr12:g.132680190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132680190A>G , CM000674.2:g.132680190A>G	GRCh38
NC_000012.11:g.133256776A>G , CM000674.1:g.133256776A>G	GRCh37
NC_000012.10:g.131766849A>G	NCBI36
NG_033840.1:g.12335T>C , LRG_789:g.12335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.345T>C
ENST00000699982.1:c.164T>C
ENST00000699983.1:c.164T>C
ENST00000699984.1:c.164T>C
ENST00000699985.1:n.379T>C
ENST00000320574.10:c.318T>C MANE Select	ENSP00000322570.5:p.Ile106=
ENST00000672742.1:c.318T>C	ENSP00000500279.1:p.Ile106=
ENST00000320574.9:c.318T>C	ENSP00000322570.5:p.Ile106=
ENST00000535270.5:c.237T>C	ENSP00000445753.1:p.Ile79=
ENST00000537064.5:c.318T>C	ENSP00000442578.1:p.Ile106=
NM_006231.3:c.318T>C , LRG_789t1:c.318T>C	NP_006222.2:p.Ile106=
XM_011534795.1:c.318T>C	XP_011533097.1:p.Ile106=
XM_011534796.1:c.189T>C	XP_011533098.1:p.Ile63=
XM_011534799.1:c.318T>C	XP_011533101.1:p.Ile106=
XM_011534800.1:c.318T>C	XP_011533102.1:p.Ile106=
XM_011534801.1:c.318T>C	XP_011533103.1:p.Ile106=
XR_941395.1:n.527T>C
XM_011534795.3:c.318T>C	XP_011533097.1:p.Ile106=
XM_011534799.2:c.318T>C	XP_011533101.1:p.Ile106=
XR_002957338.1:n.522T>C
XR_002957339.1:n.522T>C
XR_941395.2:n.522T>C
NM_006231.4:c.318T>C MANE Select	NP_006222.2:p.Ile106=