Canonical Allele Identifier: CA2073001636
Community Standard Title: NM_006231.4(POLE):c.1420G= (p.Val474=)
Gene: POLE HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.1420G= MANE Select NP_006222.2:p.Val474=
ENST00000320574.10:c.1420G= MANE Select ENSP00000322570.5:p.Val474=
NM_006231.3:c.1420G= , LRG_789t1:c.1420G= NP_006222.2:p.Val474=
ENST00000320574.9:c.1420G= ENSP00000322570.5:p.Val474=
ENST00000535270.5:c.1339G= ENSP00000445753.1:p.Val447=
ENST00000535934.2:n.1295G=
ENST00000537064.5:c.*467G= ENSP00000442578.1:n.*467G=
ENST00000539215.5:n.128G=
ENST00000539215.6:c.128G=
ENST00000545015.1:n.17G=
ENST00000545015.2:n.1447G=
ENST00000672742.1:c.*922G= ENSP00000500279.1:n.*922G=
ENST00000699982.1:c.1274G=
ENST00000699983.1:c.1274G=
ENST00000699984.1:c.1274G=
XM_011534795.1:c.1420G= XP_011533097.1:p.Val474=
XM_011534795.3:c.1420G= XP_011533097.1:p.Val474=
XM_011534796.1:c.1291G= XP_011533098.1:p.Val431=
XM_011534797.1:c.499G= XP_011533099.1:p.Val167=
XM_011534797.3:c.499G= XP_011533099.1:p.Val167=
XM_011534798.1:c.82G= XP_011533100.1:p.Val28=
XM_011534799.1:c.1420G= XP_011533101.1:p.Val474=
XM_011534799.2:c.1420G= XP_011533101.1:p.Val474=
XM_011534800.1:c.1420G= XP_011533102.1:p.Val474=
XM_011534801.1:c.1420G= XP_011533103.1:p.Val474=
XR_002957338.1:n.1624G=
XR_002957339.1:n.1624G=
XR_941395.1:n.1629G=
XR_941395.2:n.1624G=