Canonical Allele Identifier: CA482722415

Gene: POLE

Linked Data

• ClinVar Variation Id: 473486
• ClinVar RCV Id: RCV002404538 ; RCV003327420
• dbSNP Id: rs1379550837
• gnomAD v2: 12-133248801-C-T
• gnomAD v3: 12-132672215-C-T
• gnomAD v4: 12-132672215-C-T
• MyVariant Identifiers: chr12:g.133248801C>T (hg19) ; chr12:g.132672215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672215C>T , CM000674.2:g.132672215C>T	GRCh38
NC_000012.11:g.133248801C>T , CM000674.1:g.133248801C>T	GRCh37
NC_000012.10:g.131758874C>T	NCBI36
NG_033840.1:g.20310G>A , LRG_789:g.20310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.549G>A
ENST00000699982.1:c.1648G>A
ENST00000699983.1:c.1648G>A
ENST00000699984.1:c.1648G>A
ENST00000320574.10:c.1794G>A MANE Select	ENSP00000322570.5:p.Glu598=
ENST00000672742.1:c.*1296G>A	ENSP00000500279.1:n.*1296G>A
ENST00000320574.9:c.1794G>A	ENSP00000322570.5:p.Glu598=
ENST00000535270.5:c.1713G>A	ENSP00000445753.1:p.Glu571=
ENST00000537064.5:c.*841G>A	ENSP00000442578.1:n.*841G>A
NM_006231.3:c.1794G>A , LRG_789t1:c.1794G>A	NP_006222.2:p.Glu598=
XM_011534795.1:c.1794G>A	XP_011533097.1:p.Glu598=
XM_011534796.1:c.1665G>A	XP_011533098.1:p.Glu555=
XM_011534797.1:c.873G>A	XP_011533099.1:p.Glu291=
XM_011534798.1:c.456G>A	XP_011533100.1:p.Glu152=
XM_011534799.1:c.1794G>A	XP_011533101.1:p.Glu598=
XM_011534800.1:c.1794G>A	XP_011533102.1:p.Glu598=
XM_011534801.1:c.1794G>A	XP_011533103.1:p.Glu598=
XR_941395.1:n.2003G>A
XM_011534795.3:c.1794G>A	XP_011533097.1:p.Glu598=
XM_011534797.3:c.873G>A	XP_011533099.1:p.Glu291=
XM_011534799.2:c.1794G>A	XP_011533101.1:p.Glu598=
XR_002957338.1:n.1998G>A
XR_002957339.1:n.1998G>A
XR_941395.2:n.1998G>A
NM_006231.4:c.1794G>A MANE Select	NP_006222.2:p.Glu598=