Canonical Allele Identifier: CA387356228

Gene: POLE

Linked Data

• ClinVar Variation Id: 657239
• ClinVar RCV Id: RCV003655289
• dbSNP Id: rs1593069244
• gnomAD v4: 12-132672226-T-C
• MyVariant Identifiers: chr12:g.133248812T>C (hg19) ; chr12:g.132672226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672226T>C , CM000674.2:g.132672226T>C	GRCh38
NC_000012.11:g.133248812T>C , CM000674.1:g.133248812T>C	GRCh37
NC_000012.10:g.131758885T>C	NCBI36
NG_033840.1:g.20299A>G , LRG_789:g.20299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.538A>G
ENST00000699982.1:c.1637A>G
ENST00000699983.1:c.1637A>G
ENST00000699984.1:c.1637A>G
ENST00000320574.10:c.1783A>G MANE Select	ENSP00000322570.5:p.Asn595Asp
ENST00000672742.1:c.*1285A>G	ENSP00000500279.1:n.*1285A>G
ENST00000320574.9:c.1783A>G	ENSP00000322570.5:p.Asn595Asp
ENST00000535270.5:c.1702A>G	ENSP00000445753.1:p.Asn568Asp
ENST00000537064.5:c.*830A>G	ENSP00000442578.1:n.*830A>G
NM_006231.3:c.1783A>G , LRG_789t1:c.1783A>G	NP_006222.2:p.Asn595Asp
XM_011534795.1:c.1783A>G	XP_011533097.1:p.Asn595Asp
XM_011534796.1:c.1654A>G	XP_011533098.1:p.Asn552Asp
XM_011534797.1:c.862A>G	XP_011533099.1:p.Asn288Asp
XM_011534798.1:c.445A>G	XP_011533100.1:p.Asn149Asp
XM_011534799.1:c.1783A>G	XP_011533101.1:p.Asn595Asp
XM_011534800.1:c.1783A>G	XP_011533102.1:p.Asn595Asp
XM_011534801.1:c.1783A>G	XP_011533103.1:p.Asn595Asp
XR_941395.1:n.1992A>G
XM_011534795.3:c.1783A>G	XP_011533097.1:p.Asn595Asp
XM_011534797.3:c.862A>G	XP_011533099.1:p.Asn288Asp
XM_011534799.2:c.1783A>G	XP_011533101.1:p.Asn595Asp
XR_002957338.1:n.1987A>G
XR_002957339.1:n.1987A>G
XR_941395.2:n.1987A>G
NM_006231.4:c.1783A>G MANE Select	NP_006222.2:p.Asn595Asp