Canonical Allele Identifier: CA2727418891

Gene: POLE

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643404T>G , CM000674.2:g.132643404T>G	GRCh38
NC_000012.11:g.133219990T>G , CM000674.1:g.133219990T>G	GRCh37
NC_000012.10:g.131730063T>G	NCBI36
NG_033840.1:g.49121A>C , LRG_789:g.49121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2067+3A>C
ENST00000544870.6:c.2117+3A>C	ENSP00000479927.2:n.2117+3A>C
ENST00000699981.1:n.2098+3A>C
ENST00000699982.1:c.4298+3A>C
ENST00000699983.1:c.5002+3A>C
ENST00000699984.1:c.4298+3A>C
ENST00000320574.10:c.4444+3A>C MANE Select	ENSP00000322570.5:n.4444+3A>C
ENST00000672002.1:c.2117+3A>C	ENSP00000500233.1:n.2117+3A>C
ENST00000672742.1:c.*4650+3A>C	ENSP00000500279.1:n.*4650+3A>C
ENST00000320574.9:c.4444+3A>C	ENSP00000322570.5:n.4444+3A>C
ENST00000535270.5:c.4363+3A>C	ENSP00000445753.1:n.4363+3A>C
ENST00000537064.5:c.*4195+3A>C	ENSP00000442578.1:n.*4195+3A>C
NM_006231.3:c.4444+3A>C , LRG_789t1:c.4444+3A>C	NP_006222.2:n.4444+3A>C
XM_011534795.1:c.4444+3A>C	XP_011533097.1:n.4444+3A>C
XM_011534796.1:c.4315+3A>C	XP_011533098.1:n.4315+3A>C
XM_011534797.1:c.3523+3A>C	XP_011533099.1:n.3523+3A>C
XM_011534798.1:c.3106+3A>C	XP_011533100.1:n.3106+3A>C
XM_011534799.1:c.4444+3A>C	XP_011533101.1:n.4444+3A>C
XM_011534800.1:c.4444+3A>C	XP_011533102.1:n.4444+3A>C
XM_011534802.1:c.1432+3A>C	XP_011533104.1:n.1432+3A>C
XR_941395.1:n.4702+3A>C
XM_011534795.3:c.4444+3A>C	XP_011533097.1:n.4444+3A>C
XM_011534797.3:c.3523+3A>C	XP_011533099.1:n.3523+3A>C
XM_011534799.2:c.4444+3A>C	XP_011533101.1:n.4444+3A>C
XM_011534802.3:c.1432+3A>C	XP_011533104.1:n.1432+3A>C
XR_002957338.1:n.4648+3A>C
XR_002957339.1:n.4648+3A>C
XR_941395.2:n.4697+3A>C
NM_006231.4:c.4444+3A>C MANE Select	NP_006222.2:n.4444+3A>C