Canonical Allele Identifier: CA387358105

Gene: POLE

Linked Data

• dbSNP Id: rs2042969483
• MyVariant Identifiers: chr12:g.133249763A>T (hg19) ; chr12:g.132673177A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673177A>T , CM000674.2:g.132673177A>T	GRCh38
NC_000012.11:g.133249763A>T , CM000674.1:g.133249763A>T	GRCh37
NC_000012.10:g.131759836A>T	NCBI36
NG_033840.1:g.19348T>A , LRG_789:g.19348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.168T>A
ENST00000545015.2:n.1487T>A
ENST00000699982.1:c.1314T>A
ENST00000699983.1:c.1314T>A
ENST00000699984.1:c.1314T>A
ENST00000320574.10:c.1460T>A MANE Select	ENSP00000322570.5:p.Met487Lys
ENST00000672742.1:c.*962T>A	ENSP00000500279.1:n.*962T>A
ENST00000320574.9:c.1460T>A	ENSP00000322570.5:p.Met487Lys
ENST00000535270.5:c.1379T>A	ENSP00000445753.1:p.Met460Lys
ENST00000535934.2:n.1335T>A
ENST00000537064.5:c.*507T>A	ENSP00000442578.1:n.*507T>A
ENST00000539215.5:n.168T>A
ENST00000545015.1:n.57T>A
NM_006231.3:c.1460T>A , LRG_789t1:c.1460T>A	NP_006222.2:p.Met487Lys
XM_011534795.1:c.1460T>A	XP_011533097.1:p.Met487Lys
XM_011534796.1:c.1331T>A	XP_011533098.1:p.Met444Lys
XM_011534797.1:c.539T>A	XP_011533099.1:p.Met180Lys
XM_011534798.1:c.122T>A	XP_011533100.1:p.Met41Lys
XM_011534799.1:c.1460T>A	XP_011533101.1:p.Met487Lys
XM_011534800.1:c.1460T>A	XP_011533102.1:p.Met487Lys
XM_011534801.1:c.1460T>A	XP_011533103.1:p.Met487Lys
XR_941395.1:n.1669T>A
XM_011534795.3:c.1460T>A	XP_011533097.1:p.Met487Lys
XM_011534797.3:c.539T>A	XP_011533099.1:p.Met180Lys
XM_011534799.2:c.1460T>A	XP_011533101.1:p.Met487Lys
XR_002957338.1:n.1664T>A
XR_002957339.1:n.1664T>A
XR_941395.2:n.1664T>A
NM_006231.4:c.1460T>A MANE Select	NP_006222.2:p.Met487Lys