Canonical Allele Identifier: CA387358406

Gene: POLE

Linked Data

• dbSNP Id: rs980578884
• MyVariant Identifiers: chr12:g.133249803C>G (hg19) ; chr12:g.132673217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673217C>G , CM000674.2:g.132673217C>G	GRCh38
NC_000012.11:g.133249803C>G , CM000674.1:g.133249803C>G	GRCh37
NC_000012.10:g.131759876C>G	NCBI36
NG_033840.1:g.19308G>C , LRG_789:g.19308G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.128G>C
ENST00000545015.2:n.1447G>C
ENST00000699982.1:c.1274G>C
ENST00000699983.1:c.1274G>C
ENST00000699984.1:c.1274G>C
ENST00000320574.10:c.1420G>C MANE Select	ENSP00000322570.5:p.Val474Leu
ENST00000672742.1:c.*922G>C	ENSP00000500279.1:n.*922G>C
ENST00000320574.9:c.1420G>C	ENSP00000322570.5:p.Val474Leu
ENST00000535270.5:c.1339G>C	ENSP00000445753.1:p.Val447Leu
ENST00000535934.2:n.1295G>C
ENST00000537064.5:c.*467G>C	ENSP00000442578.1:n.*467G>C
ENST00000539215.5:n.128G>C
ENST00000545015.1:n.17G>C
NM_006231.3:c.1420G>C , LRG_789t1:c.1420G>C	NP_006222.2:p.Val474Leu
XM_011534795.1:c.1420G>C	XP_011533097.1:p.Val474Leu
XM_011534796.1:c.1291G>C	XP_011533098.1:p.Val431Leu
XM_011534797.1:c.499G>C	XP_011533099.1:p.Val167Leu
XM_011534798.1:c.82G>C	XP_011533100.1:p.Val28Leu
XM_011534799.1:c.1420G>C	XP_011533101.1:p.Val474Leu
XM_011534800.1:c.1420G>C	XP_011533102.1:p.Val474Leu
XM_011534801.1:c.1420G>C	XP_011533103.1:p.Val474Leu
XR_941395.1:n.1629G>C
XM_011534795.3:c.1420G>C	XP_011533097.1:p.Val474Leu
XM_011534797.3:c.499G>C	XP_011533099.1:p.Val167Leu
XM_011534799.2:c.1420G>C	XP_011533101.1:p.Val474Leu
XR_002957338.1:n.1624G>C
XR_002957339.1:n.1624G>C
XR_941395.2:n.1624G>C
NM_006231.4:c.1420G>C MANE Select	NP_006222.2:p.Val474Leu