Canonical Allele Identifier: CA387358259

Gene: POLE

Linked Data

• dbSNP Id: rs951851739
• MyVariant Identifiers: chr12:g.133249784G>T (hg19) ; chr12:g.132673198G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673198G>T , CM000674.2:g.132673198G>T	GRCh38
NC_000012.11:g.133249784G>T , CM000674.1:g.133249784G>T	GRCh37
NC_000012.10:g.131759857G>T	NCBI36
NG_033840.1:g.19327C>A , LRG_789:g.19327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.147C>A
ENST00000545015.2:n.1466C>A
ENST00000699982.1:c.1293C>A
ENST00000699983.1:c.1293C>A
ENST00000699984.1:c.1293C>A
ENST00000320574.10:c.1439C>A MANE Select	ENSP00000322570.5:p.Ala480Asp
ENST00000672742.1:c.*941C>A	ENSP00000500279.1:n.*941C>A
ENST00000320574.9:c.1439C>A	ENSP00000322570.5:p.Ala480Asp
ENST00000535270.5:c.1358C>A	ENSP00000445753.1:p.Ala453Asp
ENST00000535934.2:n.1314C>A
ENST00000537064.5:c.*486C>A	ENSP00000442578.1:n.*486C>A
ENST00000539215.5:n.147C>A
ENST00000545015.1:n.36C>A
NM_006231.3:c.1439C>A , LRG_789t1:c.1439C>A	NP_006222.2:p.Ala480Asp
XM_011534795.1:c.1439C>A	XP_011533097.1:p.Ala480Asp
XM_011534796.1:c.1310C>A	XP_011533098.1:p.Ala437Asp
XM_011534797.1:c.518C>A	XP_011533099.1:p.Ala173Asp
XM_011534798.1:c.101C>A	XP_011533100.1:p.Ala34Asp
XM_011534799.1:c.1439C>A	XP_011533101.1:p.Ala480Asp
XM_011534800.1:c.1439C>A	XP_011533102.1:p.Ala480Asp
XM_011534801.1:c.1439C>A	XP_011533103.1:p.Ala480Asp
XR_941395.1:n.1648C>A
XM_011534795.3:c.1439C>A	XP_011533097.1:p.Ala480Asp
XM_011534797.3:c.518C>A	XP_011533099.1:p.Ala173Asp
XM_011534799.2:c.1439C>A	XP_011533101.1:p.Ala480Asp
XR_002957338.1:n.1643C>A
XR_002957339.1:n.1643C>A
XR_941395.2:n.1643C>A
NM_006231.4:c.1439C>A MANE Select	NP_006222.2:p.Ala480Asp