Canonical Allele Identifier: CA1630855837
Community Standard Title: NM_006231.4(POLE):c.3156G= (p.Thr1052=)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132659414C= , CM000674.2:g.132659414C= GRCh38
NC_000012.11:g.133236000C= , CM000674.1:g.133236000C= GRCh37
NC_000012.10:g.131746073C= NCBI36
NG_033840.1:g.33111G= , LRG_789:g.33111G=

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.3156G= MANE Select NP_006222.2:p.Thr1052=
ENST00000320574.10:c.3156G= MANE Select ENSP00000322570.5:p.Thr1052=
NM_006231.3:c.3156G= , LRG_789t1:c.3156G= NP_006222.2:p.Thr1052=
ENST00000320574.9:c.3156G= ENSP00000322570.5:p.Thr1052=
ENST00000535270.5:c.3075G= ENSP00000445753.1:p.Thr1025=
ENST00000536445.5:n.1500G=
ENST00000537064.5:c.*2203G= ENSP00000442578.1:n.*2203G=
ENST00000544870.6:c.777G= ENSP00000479927.2:p.Thr259=
ENST00000672002.1:c.777G= ENSP00000500233.1:p.Thr259=
ENST00000672742.1:c.*2658G= ENSP00000500279.1:n.*2658G=
ENST00000699982.1:c.3010G=
ENST00000699983.1:c.3010G=
ENST00000699984.1:c.3010G=
XM_011534795.1:c.3156G= XP_011533097.1:p.Thr1052=
XM_011534795.3:c.3156G= XP_011533097.1:p.Thr1052=
XM_011534796.1:c.3027G= XP_011533098.1:p.Thr1009=
XM_011534797.1:c.2235G= XP_011533099.1:p.Thr745=
XM_011534797.3:c.2235G= XP_011533099.1:p.Thr745=
XM_011534798.1:c.1818G= XP_011533100.1:p.Thr606=
XM_011534799.1:c.3156G= XP_011533101.1:p.Thr1052=
XM_011534799.2:c.3156G= XP_011533101.1:p.Thr1052=
XM_011534800.1:c.3156G= XP_011533102.1:p.Thr1052=
XM_011534801.1:c.3156G= XP_011533103.1:p.Thr1052=
XM_011534802.1:c.144G= XP_011533104.1:p.Thr48=
XM_011534802.3:c.144G= XP_011533104.1:p.Thr48=
XR_002957338.1:n.3360G=
XR_002957339.1:n.3360G=
XR_941395.1:n.3365G=
XR_941395.2:n.3360G=