Canonical Allele Identifier: CA387393516

Gene: POLE

Linked Data

• ClinVar Variation Id: 2121543
• ClinVar RCV Id: RCV003658694
• dbSNP Id: rs2135947998
• MyVariant Identifiers: chr12:g.133238112C>A (hg19) ; chr12:g.132661526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661526C>A , CM000674.2:g.132661526C>A	GRCh38
NC_000012.11:g.133238112C>A , CM000674.1:g.133238112C>A	GRCh37
NC_000012.10:g.131748185C>A	NCBI36
NG_033840.1:g.30999G>T , LRG_789:g.30999G>T

Transcript Alleles

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