Canonical Allele Identifier: CA16613985

Gene: POLE

Linked Data

• ClinVar Variation Id: 405887
• ClinVar RCV Id: RCV003105910 ; RCV002489018
• dbSNP Id: rs1060500884
• gnomAD v2: 12-133245307-T-A
• gnomAD v3: 12-132668721-T-A
• gnomAD v4: 12-132668721-T-A
• MyVariant Identifiers: chr12:g.133245307T>A (hg19) ; chr12:g.132668721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668721T>A , CM000674.2:g.132668721T>A	GRCh38
NC_000012.11:g.133245307T>A , CM000674.1:g.133245307T>A	GRCh37
NC_000012.10:g.131755380T>A	NCBI36
NG_033840.1:g.23804A>T , LRG_789:g.23804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.1794A>T
ENST00000699983.1:c.1794A>T
ENST00000699984.1:c.1794A>T
ENST00000320574.10:c.1940A>T MANE Select	ENSP00000322570.5:p.Asp647Val
ENST00000672742.1:c.*1442A>T	ENSP00000500279.1:n.*1442A>T
ENST00000320574.9:c.1940A>T	ENSP00000322570.5:p.Asp647Val
ENST00000535270.5:c.1859A>T	ENSP00000445753.1:p.Asp620Val
ENST00000537064.5:c.*987A>T	ENSP00000442578.1:n.*987A>T
NM_006231.3:c.1940A>T , LRG_789t1:c.1940A>T	NP_006222.2:p.Asp647Val
XM_011534795.1:c.1940A>T	XP_011533097.1:p.Asp647Val
XM_011534796.1:c.1811A>T	XP_011533098.1:p.Asp604Val
XM_011534797.1:c.1019A>T	XP_011533099.1:p.Asp340Val
XM_011534798.1:c.602A>T	XP_011533100.1:p.Asp201Val
XM_011534799.1:c.1940A>T	XP_011533101.1:p.Asp647Val
XM_011534800.1:c.1940A>T	XP_011533102.1:p.Asp647Val
XM_011534801.1:c.1940A>T	XP_011533103.1:p.Asp647Val
XR_941395.1:n.2149A>T
XM_011534795.3:c.1940A>T	XP_011533097.1:p.Asp647Val
XM_011534797.3:c.1019A>T	XP_011533099.1:p.Asp340Val
XM_011534799.2:c.1940A>T	XP_011533101.1:p.Asp647Val
XR_002957338.1:n.2144A>T
XR_002957339.1:n.2144A>T
XR_941395.2:n.2144A>T
NM_006231.4:c.1940A>T MANE Select	NP_006222.2:p.Asp647Val