Canonical Allele Identifier: CA387358652

Gene: POLE

Linked Data

• ClinVar Variation Id: 484452
• ClinVar RCV Id: RCV000562739 ; RCV003767192
• dbSNP Id: rs1555228496
• MyVariant Identifiers: chr12:g.133249833C>T (hg19) ; chr12:g.132673247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673247C>T , CM000674.2:g.132673247C>T	GRCh38
NC_000012.11:g.133249833C>T , CM000674.1:g.133249833C>T	GRCh37
NC_000012.10:g.131759906C>T	NCBI36
NG_033840.1:g.19278G>A , LRG_789:g.19278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.98G>A
ENST00000545015.2:n.1417G>A
ENST00000699982.1:c.1244G>A
ENST00000699983.1:c.1244G>A
ENST00000699984.1:c.1244G>A
ENST00000320574.10:c.1390G>A MANE Select	ENSP00000322570.5:p.Val464Ile
ENST00000672742.1:c.*892G>A	ENSP00000500279.1:n.*892G>A
ENST00000320574.9:c.1390G>A	ENSP00000322570.5:p.Val464Ile
ENST00000535270.5:c.1309G>A	ENSP00000445753.1:p.Val437Ile
ENST00000535934.2:n.1265G>A
ENST00000537064.5:c.*437G>A	ENSP00000442578.1:n.*437G>A
ENST00000539215.5:n.98G>A
NM_006231.3:c.1390G>A , LRG_789t1:c.1390G>A	NP_006222.2:p.Val464Ile
XM_011534795.1:c.1390G>A	XP_011533097.1:p.Val464Ile
XM_011534796.1:c.1261G>A	XP_011533098.1:p.Val421Ile
XM_011534797.1:c.469G>A	XP_011533099.1:p.Val157Ile
XM_011534798.1:c.52G>A	XP_011533100.1:p.Val18Ile
XM_011534799.1:c.1390G>A	XP_011533101.1:p.Val464Ile
XM_011534800.1:c.1390G>A	XP_011533102.1:p.Val464Ile
XM_011534801.1:c.1390G>A	XP_011533103.1:p.Val464Ile
XR_941395.1:n.1599G>A
XM_011534795.3:c.1390G>A	XP_011533097.1:p.Val464Ile
XM_011534797.3:c.469G>A	XP_011533099.1:p.Val157Ile
XM_011534799.2:c.1390G>A	XP_011533101.1:p.Val464Ile
XR_002957338.1:n.1594G>A
XR_002957339.1:n.1594G>A
XR_941395.2:n.1594G>A
NM_006231.4:c.1390G>A MANE Select	NP_006222.2:p.Val464Ile