Canonical Allele Identifier: CA482723553

Gene: POLE

Linked Data

• dbSNP Id: rs2136015904
• gnomAD v4: 12-132676600-A-G
• MyVariant Identifiers: chr12:g.133253186A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676600A>G , CM000674.2:g.132676600A>G	GRCh38
NC_000012.11:g.133253186A>G , CM000674.1:g.133253186A>G	GRCh37
NC_000012.10:g.131763259A>G	NCBI36
NG_033840.1:g.15925T>C , LRG_789:g.15925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.882T>C
ENST00000699982.1:c.701T>C
ENST00000699983.1:c.701T>C
ENST00000699984.1:c.701T>C
ENST00000320574.10:c.855T>C MANE Select	ENSP00000322570.5:p.Phe285=
ENST00000672742.1:c.*349T>C	ENSP00000500279.1:n.*349T>C
ENST00000320574.9:c.855T>C	ENSP00000322570.5:p.Phe285=
ENST00000535270.5:c.774T>C	ENSP00000445753.1:p.Phe258=
ENST00000537064.5:c.855T>C	ENSP00000442578.1:p.Phe285=
NM_006231.3:c.855T>C , LRG_789t1:c.855T>C	NP_006222.2:p.Phe285=
XM_011534795.1:c.855T>C	XP_011533097.1:p.Phe285=
XM_011534796.1:c.726T>C	XP_011533098.1:p.Phe242=
XM_011534797.1:c.-47T>C	XP_011533099.1:n.-47T>C
XM_011534799.1:c.855T>C	XP_011533101.1:p.Phe285=
XM_011534800.1:c.855T>C	XP_011533102.1:p.Phe285=
XM_011534801.1:c.855T>C	XP_011533103.1:p.Phe285=
XR_941395.1:n.1064T>C
XM_011534795.3:c.855T>C	XP_011533097.1:p.Phe285=
XM_011534797.3:c.-47T>C	XP_011533099.1:n.-47T>C
XM_011534799.2:c.855T>C	XP_011533101.1:p.Phe285=
XR_002957338.1:n.1059T>C
XR_002957339.1:n.1059T>C
XR_941395.2:n.1059T>C
NM_006231.4:c.855T>C MANE Select	NP_006222.2:p.Phe285=