Canonical Allele Identifier: CA387358623

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249827T>A (hg19) ; chr12:g.132673241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673241T>A , CM000674.2:g.132673241T>A	GRCh38
NC_000012.11:g.133249827T>A , CM000674.1:g.133249827T>A	GRCh37
NC_000012.10:g.131759900T>A	NCBI36
NG_033840.1:g.19284A>T , LRG_789:g.19284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.104A>T
ENST00000545015.2:n.1423A>T
ENST00000699982.1:c.1250A>T
ENST00000699983.1:c.1250A>T
ENST00000699984.1:c.1250A>T
ENST00000320574.10:c.1396A>T MANE Select	ENSP00000322570.5:p.Thr466Ser
ENST00000672742.1:c.*898A>T	ENSP00000500279.1:n.*898A>T
ENST00000320574.9:c.1396A>T	ENSP00000322570.5:p.Thr466Ser
ENST00000535270.5:c.1315A>T	ENSP00000445753.1:p.Thr439Ser
ENST00000535934.2:n.1271A>T
ENST00000537064.5:c.*443A>T	ENSP00000442578.1:n.*443A>T
ENST00000539215.5:n.104A>T
NM_006231.3:c.1396A>T , LRG_789t1:c.1396A>T	NP_006222.2:p.Thr466Ser
XM_011534795.1:c.1396A>T	XP_011533097.1:p.Thr466Ser
XM_011534796.1:c.1267A>T	XP_011533098.1:p.Thr423Ser
XM_011534797.1:c.475A>T	XP_011533099.1:p.Thr159Ser
XM_011534798.1:c.58A>T	XP_011533100.1:p.Thr20Ser
XM_011534799.1:c.1396A>T	XP_011533101.1:p.Thr466Ser
XM_011534800.1:c.1396A>T	XP_011533102.1:p.Thr466Ser
XM_011534801.1:c.1396A>T	XP_011533103.1:p.Thr466Ser
XR_941395.1:n.1605A>T
XM_011534795.3:c.1396A>T	XP_011533097.1:p.Thr466Ser
XM_011534797.3:c.475A>T	XP_011533099.1:p.Thr159Ser
XM_011534799.2:c.1396A>T	XP_011533101.1:p.Thr466Ser
XR_002957338.1:n.1600A>T
XR_002957339.1:n.1600A>T
XR_941395.2:n.1600A>T
NM_006231.4:c.1396A>T MANE Select	NP_006222.2:p.Thr466Ser