Canonical Allele Identifier: CA387356273

Gene: POLE

Linked Data

• dbSNP Id: rs1224863436
• gnomAD v2: 12-133248833-C-T
• gnomAD v4: 12-132672247-C-T
• MyVariant Identifiers: chr12:g.133248833C>T (hg19) ; chr12:g.132672247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672247C>T , CM000674.2:g.132672247C>T	GRCh38
NC_000012.11:g.133248833C>T , CM000674.1:g.133248833C>T	GRCh37
NC_000012.10:g.131758906C>T	NCBI36
NG_033840.1:g.20278G>A , LRG_789:g.20278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.517G>A
ENST00000699982.1:c.1616G>A
ENST00000699983.1:c.1616G>A
ENST00000699984.1:c.1616G>A
ENST00000320574.10:c.1762G>A MANE Select	ENSP00000322570.5:p.Val588Met
ENST00000672742.1:c.*1264G>A	ENSP00000500279.1:n.*1264G>A
ENST00000320574.9:c.1762G>A	ENSP00000322570.5:p.Val588Met
ENST00000535270.5:c.1681G>A	ENSP00000445753.1:p.Val561Met
ENST00000537064.5:c.*809G>A	ENSP00000442578.1:n.*809G>A
NM_006231.3:c.1762G>A , LRG_789t1:c.1762G>A	NP_006222.2:p.Val588Met
XM_011534795.1:c.1762G>A	XP_011533097.1:p.Val588Met
XM_011534796.1:c.1633G>A	XP_011533098.1:p.Val545Met
XM_011534797.1:c.841G>A	XP_011533099.1:p.Val281Met
XM_011534798.1:c.424G>A	XP_011533100.1:p.Val142Met
XM_011534799.1:c.1762G>A	XP_011533101.1:p.Val588Met
XM_011534800.1:c.1762G>A	XP_011533102.1:p.Val588Met
XM_011534801.1:c.1762G>A	XP_011533103.1:p.Val588Met
XR_941395.1:n.1971G>A
XM_011534795.3:c.1762G>A	XP_011533097.1:p.Val588Met
XM_011534797.3:c.841G>A	XP_011533099.1:p.Val281Met
XM_011534799.2:c.1762G>A	XP_011533101.1:p.Val588Met
XR_002957338.1:n.1966G>A
XR_002957339.1:n.1966G>A
XR_941395.2:n.1966G>A
NM_006231.4:c.1762G>A MANE Select	NP_006222.2:p.Val588Met