Canonical Allele Identifier: CA387356360

Gene: POLE

Linked Data

• dbSNP Id: rs2135990877
• MyVariant Identifiers: chr12:g.133248874A>C (hg19) ; chr12:g.132672288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672288A>C , CM000674.2:g.132672288A>C	GRCh38
NC_000012.11:g.133248874A>C , CM000674.1:g.133248874A>C	GRCh37
NC_000012.10:g.131758947A>C	NCBI36
NG_033840.1:g.20237T>G , LRG_789:g.20237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.476T>G
ENST00000699982.1:c.1575T>G
ENST00000699983.1:c.1575T>G
ENST00000699984.1:c.1575T>G
ENST00000320574.10:c.1721T>G MANE Select	ENSP00000322570.5:p.Val574Gly
ENST00000672742.1:c.*1223T>G	ENSP00000500279.1:n.*1223T>G
ENST00000320574.9:c.1721T>G	ENSP00000322570.5:p.Val574Gly
ENST00000535270.5:c.1640T>G	ENSP00000445753.1:p.Val547Gly
ENST00000537064.5:c.*768T>G	ENSP00000442578.1:n.*768T>G
ENST00000539215.5:n.476T>G
NM_006231.3:c.1721T>G , LRG_789t1:c.1721T>G	NP_006222.2:p.Val574Gly
XM_011534795.1:c.1721T>G	XP_011533097.1:p.Val574Gly
XM_011534796.1:c.1592T>G	XP_011533098.1:p.Val531Gly
XM_011534797.1:c.800T>G	XP_011533099.1:p.Val267Gly
XM_011534798.1:c.383T>G	XP_011533100.1:p.Val128Gly
XM_011534799.1:c.1721T>G	XP_011533101.1:p.Val574Gly
XM_011534800.1:c.1721T>G	XP_011533102.1:p.Val574Gly
XM_011534801.1:c.1721T>G	XP_011533103.1:p.Val574Gly
XR_941395.1:n.1930T>G
XM_011534795.3:c.1721T>G	XP_011533097.1:p.Val574Gly
XM_011534797.3:c.800T>G	XP_011533099.1:p.Val267Gly
XM_011534799.2:c.1721T>G	XP_011533101.1:p.Val574Gly
XR_002957338.1:n.1925T>G
XR_002957339.1:n.1925T>G
XR_941395.2:n.1925T>G
NM_006231.4:c.1721T>G MANE Select	NP_006222.2:p.Val574Gly