Canonical Allele Identifier: CA387364281

Gene: POLE

Linked Data

• gnomAD v4: 12-132676601-A-G
• MyVariant Identifiers: chr12:g.133253187A>G (hg19) ; chr12:g.132676601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676601A>G , CM000674.2:g.132676601A>G	GRCh38
NC_000012.11:g.133253187A>G , CM000674.1:g.133253187A>G	GRCh37
NC_000012.10:g.131763260A>G	NCBI36
NG_033840.1:g.15924T>C , LRG_789:g.15924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.881T>C
ENST00000699982.1:c.700T>C
ENST00000699983.1:c.700T>C
ENST00000699984.1:c.700T>C
ENST00000320574.10:c.854T>C MANE Select	ENSP00000322570.5:p.Phe285Ser
ENST00000672742.1:c.*348T>C	ENSP00000500279.1:n.*348T>C
ENST00000320574.9:c.854T>C	ENSP00000322570.5:p.Phe285Ser
ENST00000535270.5:c.773T>C	ENSP00000445753.1:p.Phe258Ser
ENST00000537064.5:c.854T>C	ENSP00000442578.1:p.Phe285Ser
NM_006231.3:c.854T>C , LRG_789t1:c.854T>C	NP_006222.2:p.Phe285Ser
XM_011534795.1:c.854T>C	XP_011533097.1:p.Phe285Ser
XM_011534796.1:c.725T>C	XP_011533098.1:p.Phe242Ser
XM_011534797.1:c.-48T>C	XP_011533099.1:n.-48T>C
XM_011534799.1:c.854T>C	XP_011533101.1:p.Phe285Ser
XM_011534800.1:c.854T>C	XP_011533102.1:p.Phe285Ser
XM_011534801.1:c.854T>C	XP_011533103.1:p.Phe285Ser
XR_941395.1:n.1063T>C
XM_011534795.3:c.854T>C	XP_011533097.1:p.Phe285Ser
XM_011534797.3:c.-48T>C	XP_011533099.1:n.-48T>C
XM_011534799.2:c.854T>C	XP_011533101.1:p.Phe285Ser
XR_002957338.1:n.1058T>C
XR_002957339.1:n.1058T>C
XR_941395.2:n.1058T>C
NM_006231.4:c.854T>C MANE Select	NP_006222.2:p.Phe285Ser