Canonical Allele Identifier: CA387393515

Gene: POLE

Linked Data

• dbSNP Id: rs2135947992
• gnomAD v4: 12-132661525-A-T
• MyVariant Identifiers: chr12:g.133238111A>T (hg19) ; chr12:g.132661525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661525A>T , CM000674.2:g.132661525A>T	GRCh38
NC_000012.11:g.133238111A>T , CM000674.1:g.133238111A>T	GRCh37
NC_000012.10:g.131748184A>T	NCBI36
NG_033840.1:g.31000T>A , LRG_789:g.31000T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000544870.6:c.485+2T>A	ENSP00000479927.2:n.485+2T>A
ENST00000699982.1:c.2718+2T>A
ENST00000699983.1:c.2718+2T>A
ENST00000699984.1:c.2718+2T>A
ENST00000320574.10:c.2864+2T>A MANE Select	ENSP00000322570.5:n.2864+2T>A
ENST00000672002.1:c.485+2T>A	ENSP00000500233.1:n.485+2T>A
ENST00000672742.1:c.*2366+2T>A	ENSP00000500279.1:n.*2366+2T>A
ENST00000320574.9:c.2864+2T>A	ENSP00000322570.5:n.2864+2T>A
ENST00000535270.5:c.2783+2T>A	ENSP00000445753.1:n.2783+2T>A
ENST00000537064.5:c.*1911+2T>A	ENSP00000442578.1:n.*1911+2T>A
NM_006231.3:c.2864+2T>A , LRG_789t1:c.2864+2T>A	NP_006222.2:n.2864+2T>A
XM_011534795.1:c.2864+2T>A	XP_011533097.1:n.2864+2T>A
XM_011534796.1:c.2735+2T>A	XP_011533098.1:n.2735+2T>A
XM_011534797.1:c.1943+2T>A	XP_011533099.1:n.1943+2T>A
XM_011534798.1:c.1526+2T>A	XP_011533100.1:n.1526+2T>A
XM_011534799.1:c.2864+2T>A	XP_011533101.1:n.2864+2T>A
XM_011534800.1:c.2864+2T>A	XP_011533102.1:n.2864+2T>A
XM_011534801.1:c.2864+2T>A	XP_011533103.1:n.2864+2T>A
XR_941395.1:n.3073+2T>A
XM_011534795.3:c.2864+2T>A	XP_011533097.1:n.2864+2T>A
XM_011534797.3:c.1943+2T>A	XP_011533099.1:n.1943+2T>A
XM_011534799.2:c.2864+2T>A	XP_011533101.1:n.2864+2T>A
XR_002957338.1:n.3068+2T>A
XR_002957339.1:n.3068+2T>A
XR_941395.2:n.3068+2T>A
NM_006231.4:c.2864+2T>A MANE Select	NP_006222.2:n.2864+2T>A