Canonical Allele Identifier: CA387356256

Gene: POLE

Linked Data

• ClinVar Variation Id: 1499908
• ClinVar RCV Id: RCV003773311
• dbSNP Id: rs1593069291
• MyVariant Identifiers: chr12:g.133248826A>C (hg19) ; chr12:g.132672240A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672240A>C , CM000674.2:g.132672240A>C	GRCh38
NC_000012.11:g.133248826A>C , CM000674.1:g.133248826A>C	GRCh37
NC_000012.10:g.131758899A>C	NCBI36
NG_033840.1:g.20285T>G , LRG_789:g.20285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.524T>G
ENST00000699982.1:c.1623T>G
ENST00000699983.1:c.1623T>G
ENST00000699984.1:c.1623T>G
ENST00000320574.10:c.1769T>G MANE Select	ENSP00000322570.5:p.Val590Gly
ENST00000672742.1:c.*1271T>G	ENSP00000500279.1:n.*1271T>G
ENST00000320574.9:c.1769T>G	ENSP00000322570.5:p.Val590Gly
ENST00000535270.5:c.1688T>G	ENSP00000445753.1:p.Val563Gly
ENST00000537064.5:c.*816T>G	ENSP00000442578.1:n.*816T>G
NM_006231.3:c.1769T>G , LRG_789t1:c.1769T>G	NP_006222.2:p.Val590Gly
XM_011534795.1:c.1769T>G	XP_011533097.1:p.Val590Gly
XM_011534796.1:c.1640T>G	XP_011533098.1:p.Val547Gly
XM_011534797.1:c.848T>G	XP_011533099.1:p.Val283Gly
XM_011534798.1:c.431T>G	XP_011533100.1:p.Val144Gly
XM_011534799.1:c.1769T>G	XP_011533101.1:p.Val590Gly
XM_011534800.1:c.1769T>G	XP_011533102.1:p.Val590Gly
XM_011534801.1:c.1769T>G	XP_011533103.1:p.Val590Gly
XR_941395.1:n.1978T>G
XM_011534795.3:c.1769T>G	XP_011533097.1:p.Val590Gly
XM_011534797.3:c.848T>G	XP_011533099.1:p.Val283Gly
XM_011534799.2:c.1769T>G	XP_011533101.1:p.Val590Gly
XR_002957338.1:n.1973T>G
XR_002957339.1:n.1973T>G
XR_941395.2:n.1973T>G
NM_006231.4:c.1769T>G MANE Select	NP_006222.2:p.Val590Gly