Canonical Allele Identifier: CA246292950

Gene: POLE

Linked Data

• ClinVar Variation Id: 864583
• ClinVar RCV Id: RCV002411623 ; RCV003768983
• dbSNP Id: rs988444921
• gnomAD v2: 12-133248875-C-T
• gnomAD v3: 12-132672289-C-T
• gnomAD v4: 12-132672289-C-T
• MyVariant Identifiers: chr12:g.133248875C>T (hg19) ; chr12:g.132672289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672289C>T , CM000674.2:g.132672289C>T	GRCh38
NC_000012.11:g.133248875C>T , CM000674.1:g.133248875C>T	GRCh37
NC_000012.10:g.131758948C>T	NCBI36
NG_033840.1:g.20236G>A , LRG_789:g.20236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.475G>A
ENST00000699982.1:c.1574G>A
ENST00000699983.1:c.1574G>A
ENST00000699984.1:c.1574G>A
ENST00000320574.10:c.1720G>A MANE Select	ENSP00000322570.5:p.Val574Ile
ENST00000672742.1:c.*1222G>A	ENSP00000500279.1:n.*1222G>A
ENST00000320574.9:c.1720G>A	ENSP00000322570.5:p.Val574Ile
ENST00000535270.5:c.1639G>A	ENSP00000445753.1:p.Val547Ile
ENST00000537064.5:c.*767G>A	ENSP00000442578.1:n.*767G>A
ENST00000539215.5:n.475G>A
NM_006231.3:c.1720G>A , LRG_789t1:c.1720G>A	NP_006222.2:p.Val574Ile
XM_011534795.1:c.1720G>A	XP_011533097.1:p.Val574Ile
XM_011534796.1:c.1591G>A	XP_011533098.1:p.Val531Ile
XM_011534797.1:c.799G>A	XP_011533099.1:p.Val267Ile
XM_011534798.1:c.382G>A	XP_011533100.1:p.Val128Ile
XM_011534799.1:c.1720G>A	XP_011533101.1:p.Val574Ile
XM_011534800.1:c.1720G>A	XP_011533102.1:p.Val574Ile
XM_011534801.1:c.1720G>A	XP_011533103.1:p.Val574Ile
XR_941395.1:n.1929G>A
XM_011534795.3:c.1720G>A	XP_011533097.1:p.Val574Ile
XM_011534797.3:c.799G>A	XP_011533099.1:p.Val267Ile
XM_011534799.2:c.1720G>A	XP_011533101.1:p.Val574Ile
XR_002957338.1:n.1924G>A
XR_002957339.1:n.1924G>A
XR_941395.2:n.1924G>A
NM_006231.4:c.1720G>A MANE Select	NP_006222.2:p.Val574Ile