Canonical Allele Identifier: CA387356368

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133248880T>G (hg19) ; chr12:g.132672294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672294T>G , CM000674.2:g.132672294T>G	GRCh38
NC_000012.11:g.133248880T>G , CM000674.1:g.133248880T>G	GRCh37
NC_000012.10:g.131758953T>G	NCBI36
NG_033840.1:g.20231A>C , LRG_789:g.20231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.470A>C
ENST00000699982.1:c.1569A>C
ENST00000699983.1:c.1569A>C
ENST00000699984.1:c.1569A>C
ENST00000320574.10:c.1715A>C MANE Select	ENSP00000322570.5:p.Gln572Pro
ENST00000672742.1:c.*1217A>C	ENSP00000500279.1:n.*1217A>C
ENST00000320574.9:c.1715A>C	ENSP00000322570.5:p.Gln572Pro
ENST00000535270.5:c.1634A>C	ENSP00000445753.1:p.Gln545Pro
ENST00000537064.5:c.*762A>C	ENSP00000442578.1:n.*762A>C
ENST00000539215.5:n.470A>C
NM_006231.3:c.1715A>C , LRG_789t1:c.1715A>C	NP_006222.2:p.Gln572Pro
XM_011534795.1:c.1715A>C	XP_011533097.1:p.Gln572Pro
XM_011534796.1:c.1586A>C	XP_011533098.1:p.Gln529Pro
XM_011534797.1:c.794A>C	XP_011533099.1:p.Gln265Pro
XM_011534798.1:c.377A>C	XP_011533100.1:p.Gln126Pro
XM_011534799.1:c.1715A>C	XP_011533101.1:p.Gln572Pro
XM_011534800.1:c.1715A>C	XP_011533102.1:p.Gln572Pro
XM_011534801.1:c.1715A>C	XP_011533103.1:p.Gln572Pro
XR_941395.1:n.1924A>C
XM_011534795.3:c.1715A>C	XP_011533097.1:p.Gln572Pro
XM_011534797.3:c.794A>C	XP_011533099.1:p.Gln265Pro
XM_011534799.2:c.1715A>C	XP_011533101.1:p.Gln572Pro
XR_002957338.1:n.1919A>C
XR_002957339.1:n.1919A>C
XR_941395.2:n.1919A>C
NM_006231.4:c.1715A>C MANE Select	NP_006222.2:p.Gln572Pro