Canonical Allele Identifier: CA387358264

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249785C>A (hg19) ; chr12:g.132673199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673199C>A , CM000674.2:g.132673199C>A	GRCh38
NC_000012.11:g.133249785C>A , CM000674.1:g.133249785C>A	GRCh37
NC_000012.10:g.131759858C>A	NCBI36
NG_033840.1:g.19326G>T , LRG_789:g.19326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.146G>T
ENST00000545015.2:n.1465G>T
ENST00000699982.1:c.1292G>T
ENST00000699983.1:c.1292G>T
ENST00000699984.1:c.1292G>T
ENST00000320574.10:c.1438G>T MANE Select	ENSP00000322570.5:p.Ala480Ser
ENST00000672742.1:c.*940G>T	ENSP00000500279.1:n.*940G>T
ENST00000320574.9:c.1438G>T	ENSP00000322570.5:p.Ala480Ser
ENST00000535270.5:c.1357G>T	ENSP00000445753.1:p.Ala453Ser
ENST00000535934.2:n.1313G>T
ENST00000537064.5:c.*485G>T	ENSP00000442578.1:n.*485G>T
ENST00000539215.5:n.146G>T
ENST00000545015.1:n.35G>T
NM_006231.3:c.1438G>T , LRG_789t1:c.1438G>T	NP_006222.2:p.Ala480Ser
XM_011534795.1:c.1438G>T	XP_011533097.1:p.Ala480Ser
XM_011534796.1:c.1309G>T	XP_011533098.1:p.Ala437Ser
XM_011534797.1:c.517G>T	XP_011533099.1:p.Ala173Ser
XM_011534798.1:c.100G>T	XP_011533100.1:p.Ala34Ser
XM_011534799.1:c.1438G>T	XP_011533101.1:p.Ala480Ser
XM_011534800.1:c.1438G>T	XP_011533102.1:p.Ala480Ser
XM_011534801.1:c.1438G>T	XP_011533103.1:p.Ala480Ser
XR_941395.1:n.1647G>T
XM_011534795.3:c.1438G>T	XP_011533097.1:p.Ala480Ser
XM_011534797.3:c.517G>T	XP_011533099.1:p.Ala173Ser
XM_011534799.2:c.1438G>T	XP_011533101.1:p.Ala480Ser
XR_002957338.1:n.1642G>T
XR_002957339.1:n.1642G>T
XR_941395.2:n.1642G>T
NM_006231.4:c.1438G>T MANE Select	NP_006222.2:p.Ala480Ser