Canonical Allele Identifier: CA387358427

Gene: POLE

Linked Data

• dbSNP Id: rs2135996279
• MyVariant Identifiers: chr12:g.133249805T>G (hg19) ; chr12:g.132673219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673219T>G , CM000674.2:g.132673219T>G	GRCh38
NC_000012.11:g.133249805T>G , CM000674.1:g.133249805T>G	GRCh37
NC_000012.10:g.131759878T>G	NCBI36
NG_033840.1:g.19306A>C , LRG_789:g.19306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.126A>C
ENST00000545015.2:n.1445A>C
ENST00000699982.1:c.1272A>C
ENST00000699983.1:c.1272A>C
ENST00000699984.1:c.1272A>C
ENST00000320574.10:c.1418A>C MANE Select	ENSP00000322570.5:p.Tyr473Ser
ENST00000672742.1:c.*920A>C	ENSP00000500279.1:n.*920A>C
ENST00000320574.9:c.1418A>C	ENSP00000322570.5:p.Tyr473Ser
ENST00000535270.5:c.1337A>C	ENSP00000445753.1:p.Tyr446Ser
ENST00000535934.2:n.1293A>C
ENST00000537064.5:c.*465A>C	ENSP00000442578.1:n.*465A>C
ENST00000539215.5:n.126A>C
ENST00000545015.1:n.15A>C
NM_006231.3:c.1418A>C , LRG_789t1:c.1418A>C	NP_006222.2:p.Tyr473Ser
XM_011534795.1:c.1418A>C	XP_011533097.1:p.Tyr473Ser
XM_011534796.1:c.1289A>C	XP_011533098.1:p.Tyr430Ser
XM_011534797.1:c.497A>C	XP_011533099.1:p.Tyr166Ser
XM_011534798.1:c.80A>C	XP_011533100.1:p.Tyr27Ser
XM_011534799.1:c.1418A>C	XP_011533101.1:p.Tyr473Ser
XM_011534800.1:c.1418A>C	XP_011533102.1:p.Tyr473Ser
XM_011534801.1:c.1418A>C	XP_011533103.1:p.Tyr473Ser
XR_941395.1:n.1627A>C
XM_011534795.3:c.1418A>C	XP_011533097.1:p.Tyr473Ser
XM_011534797.3:c.497A>C	XP_011533099.1:p.Tyr166Ser
XM_011534799.2:c.1418A>C	XP_011533101.1:p.Tyr473Ser
XR_002957338.1:n.1622A>C
XR_002957339.1:n.1622A>C
XR_941395.2:n.1622A>C
NM_006231.4:c.1418A>C MANE Select	NP_006222.2:p.Tyr473Ser