Canonical Allele Identifier: CA482722688

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249816C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673230C>A , CM000674.2:g.132673230C>A	GRCh38
NC_000012.11:g.133249816C>A , CM000674.1:g.133249816C>A	GRCh37
NC_000012.10:g.131759889C>A	NCBI36
NG_033840.1:g.19295G>T , LRG_789:g.19295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.115G>T
ENST00000545015.2:n.1434G>T
ENST00000699982.1:c.1261G>T
ENST00000699983.1:c.1261G>T
ENST00000699984.1:c.1261G>T
ENST00000320574.10:c.1407G>T MANE Select	ENSP00000322570.5:p.Leu469=
ENST00000672742.1:c.*909G>T	ENSP00000500279.1:n.*909G>T
ENST00000320574.9:c.1407G>T	ENSP00000322570.5:p.Leu469=
ENST00000535270.5:c.1326G>T	ENSP00000445753.1:p.Leu442=
ENST00000535934.2:n.1282G>T
ENST00000537064.5:c.*454G>T	ENSP00000442578.1:n.*454G>T
ENST00000539215.5:n.115G>T
ENST00000545015.1:n.4G>T
NM_006231.3:c.1407G>T , LRG_789t1:c.1407G>T	NP_006222.2:p.Leu469=
XM_011534795.1:c.1407G>T	XP_011533097.1:p.Leu469=
XM_011534796.1:c.1278G>T	XP_011533098.1:p.Leu426=
XM_011534797.1:c.486G>T	XP_011533099.1:p.Leu162=
XM_011534798.1:c.69G>T	XP_011533100.1:p.Leu23=
XM_011534799.1:c.1407G>T	XP_011533101.1:p.Leu469=
XM_011534800.1:c.1407G>T	XP_011533102.1:p.Leu469=
XM_011534801.1:c.1407G>T	XP_011533103.1:p.Leu469=
XR_941395.1:n.1616G>T
XM_011534795.3:c.1407G>T	XP_011533097.1:p.Leu469=
XM_011534797.3:c.486G>T	XP_011533099.1:p.Leu162=
XM_011534799.2:c.1407G>T	XP_011533101.1:p.Leu469=
XR_002957338.1:n.1611G>T
XR_002957339.1:n.1611G>T
XR_941395.2:n.1611G>T
NM_006231.4:c.1407G>T MANE Select	NP_006222.2:p.Leu469=