Canonical Allele Identifier: CA387358063

Gene: POLE

Linked Data

• ClinVar Variation Id: 1046831
• ClinVar RCV Id: RCV003771019
• dbSNP Id: rs755463796
• MyVariant Identifiers: chr12:g.133249755C>A (hg19) ; chr12:g.132673169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673169C>A , CM000674.2:g.132673169C>A	GRCh38
NC_000012.11:g.133249755C>A , CM000674.1:g.133249755C>A	GRCh37
NC_000012.10:g.131759828C>A	NCBI36
NG_033840.1:g.19356G>T , LRG_789:g.19356G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.176G>T
ENST00000545015.2:n.1495G>T
ENST00000699982.1:c.1322G>T
ENST00000699983.1:c.1322G>T
ENST00000699984.1:c.1322G>T
ENST00000320574.10:c.1468G>T MANE Select	ENSP00000322570.5:p.Asp490Tyr
ENST00000672742.1:c.*970G>T	ENSP00000500279.1:n.*970G>T
ENST00000320574.9:c.1468G>T	ENSP00000322570.5:p.Asp490Tyr
ENST00000535270.5:c.1387G>T	ENSP00000445753.1:p.Asp463Tyr
ENST00000535934.2:n.1343G>T
ENST00000537064.5:c.*515G>T	ENSP00000442578.1:n.*515G>T
ENST00000539215.5:n.176G>T
ENST00000545015.1:n.65G>T
NM_006231.3:c.1468G>T , LRG_789t1:c.1468G>T	NP_006222.2:p.Asp490Tyr
XM_011534795.1:c.1468G>T	XP_011533097.1:p.Asp490Tyr
XM_011534796.1:c.1339G>T	XP_011533098.1:p.Asp447Tyr
XM_011534797.1:c.547G>T	XP_011533099.1:p.Asp183Tyr
XM_011534798.1:c.130G>T	XP_011533100.1:p.Asp44Tyr
XM_011534799.1:c.1468G>T	XP_011533101.1:p.Asp490Tyr
XM_011534800.1:c.1468G>T	XP_011533102.1:p.Asp490Tyr
XM_011534801.1:c.1468G>T	XP_011533103.1:p.Asp490Tyr
XR_941395.1:n.1677G>T
XM_011534795.3:c.1468G>T	XP_011533097.1:p.Asp490Tyr
XM_011534797.3:c.547G>T	XP_011533099.1:p.Asp183Tyr
XM_011534799.2:c.1468G>T	XP_011533101.1:p.Asp490Tyr
XR_002957338.1:n.1672G>T
XR_002957339.1:n.1672G>T
XR_941395.2:n.1672G>T
NM_006231.4:c.1468G>T MANE Select	NP_006222.2:p.Asp490Tyr