Canonical Allele Identifier: CA387358058

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249754T>C (hg19) ; chr12:g.132673168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673168T>C , CM000674.2:g.132673168T>C	GRCh38
NC_000012.11:g.133249754T>C , CM000674.1:g.133249754T>C	GRCh37
NC_000012.10:g.131759827T>C	NCBI36
NG_033840.1:g.19357A>G , LRG_789:g.19357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.177A>G
ENST00000545015.2:n.1496A>G
ENST00000699982.1:c.1323A>G
ENST00000699983.1:c.1323A>G
ENST00000699984.1:c.1323A>G
ENST00000320574.10:c.1469A>G MANE Select	ENSP00000322570.5:p.Asp490Gly
ENST00000672742.1:c.*971A>G	ENSP00000500279.1:n.*971A>G
ENST00000320574.9:c.1469A>G	ENSP00000322570.5:p.Asp490Gly
ENST00000535270.5:c.1388A>G	ENSP00000445753.1:p.Asp463Gly
ENST00000535934.2:n.1344A>G
ENST00000537064.5:c.*516A>G	ENSP00000442578.1:n.*516A>G
ENST00000539215.5:n.177A>G
ENST00000545015.1:n.66A>G
NM_006231.3:c.1469A>G , LRG_789t1:c.1469A>G	NP_006222.2:p.Asp490Gly
XM_011534795.1:c.1469A>G	XP_011533097.1:p.Asp490Gly
XM_011534796.1:c.1340A>G	XP_011533098.1:p.Asp447Gly
XM_011534797.1:c.548A>G	XP_011533099.1:p.Asp183Gly
XM_011534798.1:c.131A>G	XP_011533100.1:p.Asp44Gly
XM_011534799.1:c.1469A>G	XP_011533101.1:p.Asp490Gly
XM_011534800.1:c.1469A>G	XP_011533102.1:p.Asp490Gly
XM_011534801.1:c.1469A>G	XP_011533103.1:p.Asp490Gly
XR_941395.1:n.1678A>G
XM_011534795.3:c.1469A>G	XP_011533097.1:p.Asp490Gly
XM_011534797.3:c.548A>G	XP_011533099.1:p.Asp183Gly
XM_011534799.2:c.1469A>G	XP_011533101.1:p.Asp490Gly
XR_002957338.1:n.1673A>G
XR_002957339.1:n.1673A>G
XR_941395.2:n.1673A>G
NM_006231.4:c.1469A>G MANE Select	NP_006222.2:p.Asp490Gly