Canonical Allele Identifier: CA387389737

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132657936T>C , CM000674.2:g.132657936T>C	GRCh38
NC_000012.11:g.133234522T>C , CM000674.1:g.133234522T>C	GRCh37
NC_000012.10:g.131744595T>C	NCBI36
NG_033840.1:g.34589A>G , LRG_789:g.34589A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.3310A>G MANE Select	NP_006222.2:p.Thr1104Ala
ENST00000320574.10:c.3310A>G MANE Select	ENSP00000322570.5:p.Thr1104Ala
NM_006231.3:c.3310A>G , LRG_789t1:c.3310A>G	NP_006222.2:p.Thr1104Ala
ENST00000320574.9:c.3310A>G	ENSP00000322570.5:p.Thr1104Ala
ENST00000416953.3:n.933A>G
ENST00000535270.5:c.3229A>G	ENSP00000445753.1:p.Thr1077Ala
ENST00000536445.5:n.1654A>G
ENST00000537064.5:c.*3061A>G	ENSP00000442578.1:n.*3061A>G
ENST00000544870.6:c.983A>G	ENSP00000479927.2:n.983A>G
ENST00000672002.1:c.983A>G	ENSP00000500233.1:n.983A>G
ENST00000672742.1:c.*3516A>G	ENSP00000500279.1:n.*3516A>G
ENST00000699981.1:n.964A>G
ENST00000699982.1:c.3164A>G
ENST00000699983.1:c.3868A>G
ENST00000699984.1:c.3164A>G
XM_011534795.1:c.3310A>G	XP_011533097.1:p.Thr1104Ala
XM_011534795.3:c.3310A>G	XP_011533097.1:p.Thr1104Ala
XM_011534796.1:c.3181A>G	XP_011533098.1:p.Thr1061Ala
XM_011534797.1:c.2389A>G	XP_011533099.1:p.Thr797Ala
XM_011534797.3:c.2389A>G	XP_011533099.1:p.Thr797Ala
XM_011534798.1:c.1972A>G	XP_011533100.1:p.Thr658Ala
XM_011534799.1:c.3310A>G	XP_011533101.1:p.Thr1104Ala
XM_011534799.2:c.3310A>G	XP_011533101.1:p.Thr1104Ala
XM_011534800.1:c.3310A>G	XP_011533102.1:p.Thr1104Ala
XM_011534801.1:c.3310A>G	XP_011533103.1:p.Thr1104Ala
XM_011534802.1:c.298A>G	XP_011533104.1:p.Thr100Ala
XM_011534802.3:c.298A>G	XP_011533104.1:p.Thr100Ala
XR_002957338.1:n.3514A>G
XR_002957339.1:n.3514A>G
XR_941395.1:n.3519A>G
XR_941395.2:n.3514A>G