Canonical Allele Identifier: CA387356300

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133248845C>A (hg19) ; chr12:g.132672259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672259C>A , CM000674.2:g.132672259C>A	GRCh38
NC_000012.11:g.133248845C>A , CM000674.1:g.133248845C>A	GRCh37
NC_000012.10:g.131758918C>A	NCBI36
NG_033840.1:g.20266G>T , LRG_789:g.20266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.505G>T
ENST00000699982.1:c.1604G>T
ENST00000699983.1:c.1604G>T
ENST00000699984.1:c.1604G>T
ENST00000320574.10:c.1750G>T MANE Select	ENSP00000322570.5:p.Glu584Ter
ENST00000672742.1:c.*1252G>T	ENSP00000500279.1:n.*1252G>T
ENST00000320574.9:c.1750G>T	ENSP00000322570.5:p.Glu584Ter
ENST00000535270.5:c.1669G>T	ENSP00000445753.1:p.Glu557Ter
ENST00000537064.5:c.*797G>T	ENSP00000442578.1:n.*797G>T
NM_006231.3:c.1750G>T , LRG_789t1:c.1750G>T	NP_006222.2:p.Glu584Ter
XM_011534795.1:c.1750G>T	XP_011533097.1:p.Glu584Ter
XM_011534796.1:c.1621G>T	XP_011533098.1:p.Glu541Ter
XM_011534797.1:c.829G>T	XP_011533099.1:p.Glu277Ter
XM_011534798.1:c.412G>T	XP_011533100.1:p.Glu138Ter
XM_011534799.1:c.1750G>T	XP_011533101.1:p.Glu584Ter
XM_011534800.1:c.1750G>T	XP_011533102.1:p.Glu584Ter
XM_011534801.1:c.1750G>T	XP_011533103.1:p.Glu584Ter
XR_941395.1:n.1959G>T
XM_011534795.3:c.1750G>T	XP_011533097.1:p.Glu584Ter
XM_011534797.3:c.829G>T	XP_011533099.1:p.Glu277Ter
XM_011534799.2:c.1750G>T	XP_011533101.1:p.Glu584Ter
XR_002957338.1:n.1954G>T
XR_002957339.1:n.1954G>T
XR_941395.2:n.1954G>T
NM_006231.4:c.1750G>T MANE Select	NP_006222.2:p.Glu584Ter