Canonical Allele Identifier: CA387364299

Gene: POLE

Linked Data

• dbSNP Id: rs2136016022
• gnomAD v4: 12-132676610-G-C
• MyVariant Identifiers: chr12:g.133253196G>C (hg19) ; chr12:g.132676610G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.872C>G
ENST00000699982.1:c.691C>G
ENST00000699983.1:c.691C>G
ENST00000699984.1:c.691C>G
ENST00000320574.10:c.845C>G MANE Select	ENSP00000322570.5:p.Pro282Arg
ENST00000672742.1:c.*339C>G	ENSP00000500279.1:n.*339C>G
ENST00000320574.9:c.845C>G	ENSP00000322570.5:p.Pro282Arg
ENST00000535270.5:c.764C>G	ENSP00000445753.1:p.Pro255Arg
ENST00000537064.5:c.845C>G	ENSP00000442578.1:p.Pro282Arg
NM_006231.3:c.845C>G , LRG_789t1:c.845C>G	NP_006222.2:p.Pro282Arg
XM_011534795.1:c.845C>G	XP_011533097.1:p.Pro282Arg
XM_011534796.1:c.716C>G	XP_011533098.1:p.Pro239Arg
XM_011534797.1:c.-57C>G	XP_011533099.1:n.-57C>G
XM_011534799.1:c.845C>G	XP_011533101.1:p.Pro282Arg
XM_011534800.1:c.845C>G	XP_011533102.1:p.Pro282Arg
XM_011534801.1:c.845C>G	XP_011533103.1:p.Pro282Arg
XR_941395.1:n.1054C>G
XM_011534795.3:c.845C>G	XP_011533097.1:p.Pro282Arg
XM_011534797.3:c.-57C>G	XP_011533099.1:n.-57C>G
XM_011534799.2:c.845C>G	XP_011533101.1:p.Pro282Arg
XR_002957338.1:n.1049C>G
XR_002957339.1:n.1049C>G
XR_941395.2:n.1049C>G
NM_006231.4:c.845C>G MANE Select	NP_006222.2:p.Pro282Arg