Canonical Allele Identifier: CA387364298

Gene: POLE

Linked Data

• dbSNP Id: rs2136016022
• MyVariant Identifiers: chr12:g.133253196G>A (hg19) ; chr12:g.132676610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676610G>A , CM000674.2:g.132676610G>A	GRCh38
NC_000012.11:g.133253196G>A , CM000674.1:g.133253196G>A	GRCh37
NC_000012.10:g.131763269G>A	NCBI36
NG_033840.1:g.15915C>T , LRG_789:g.15915C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.872C>T
ENST00000699982.1:c.691C>T
ENST00000699983.1:c.691C>T
ENST00000699984.1:c.691C>T
ENST00000320574.10:c.845C>T MANE Select	ENSP00000322570.5:p.Pro282Leu
ENST00000672742.1:c.*339C>T	ENSP00000500279.1:n.*339C>T
ENST00000320574.9:c.845C>T	ENSP00000322570.5:p.Pro282Leu
ENST00000535270.5:c.764C>T	ENSP00000445753.1:p.Pro255Leu
ENST00000537064.5:c.845C>T	ENSP00000442578.1:p.Pro282Leu
NM_006231.3:c.845C>T , LRG_789t1:c.845C>T	NP_006222.2:p.Pro282Leu
XM_011534795.1:c.845C>T	XP_011533097.1:p.Pro282Leu
XM_011534796.1:c.716C>T	XP_011533098.1:p.Pro239Leu
XM_011534797.1:c.-57C>T	XP_011533099.1:n.-57C>T
XM_011534799.1:c.845C>T	XP_011533101.1:p.Pro282Leu
XM_011534800.1:c.845C>T	XP_011533102.1:p.Pro282Leu
XM_011534801.1:c.845C>T	XP_011533103.1:p.Pro282Leu
XR_941395.1:n.1054C>T
XM_011534795.3:c.845C>T	XP_011533097.1:p.Pro282Leu
XM_011534797.3:c.-57C>T	XP_011533099.1:n.-57C>T
XM_011534799.2:c.845C>T	XP_011533101.1:p.Pro282Leu
XR_002957338.1:n.1049C>T
XR_002957339.1:n.1049C>T
XR_941395.2:n.1049C>T
NM_006231.4:c.845C>T MANE Select	NP_006222.2:p.Pro282Leu