Canonical Allele Identifier: CA385600197
Community Standard Title: NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64484379C>T , CM000674.2:g.64484379C>T GRCh38
NC_000012.11:g.64878159C>T , CM000674.1:g.64878159C>T GRCh37
NC_000012.10:g.63164426C>T NCBI36
NG_046906.1:g.37320C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1069C>T MANE Select NP_037386.1:p.Arg357Ter
ENST00000331710.10:c.1069C>T MANE Select ENSP00000329967.5:p.Arg357Ter
NM_013254.3:c.1069C>T NP_037386.1:p.Arg357Ter
ENST00000331710.9:c.1069C>T ENSP00000329967.5:p.Arg357Ter
ENST00000545025.1:n.339C>T
ENST00000545025.2:c.192C>T
ENST00000650708.1:c.945C>T
ENST00000650762.1:c.913C>T ENSP00000498758.1:p.Arg305Ter
ENST00000650786.1:c.*1214C>T ENSP00000498280.1:n.*1214C>T
ENST00000650790.1:c.1069C>T ENSP00000498995.1:p.Arg357Ter
ENST00000650997.1:c.1069C>T ENSP00000498341.1:p.Arg357Ter
ENST00000651014.1:c.913C>T ENSP00000498885.1:p.Arg305Ter
ENST00000651262.1:c.1069C>T ENSP00000498461.1:p.Arg357Ter
ENST00000651878.1:c.*553C>T ENSP00000499077.1:n.*553C>T
ENST00000651889.1:n.820C>T
ENST00000651947.1:n.1157C>T
ENST00000652389.1:c.1069C>T ENSP00000498414.1:p.Arg357Ter
ENST00000652537.1:c.1069C>T ENSP00000499102.1:p.Arg357Ter
ENST00000652657.1:c.1069C>T ENSP00000498887.1:p.Arg357Ter
ENST00000676490.1:c.77C>T
ENST00000676551.1:n.1168C>T
ENST00000676654.1:n.1198C>T
ENST00000676684.1:n.1198C>T
ENST00000676809.1:c.1069C>T ENSP00000504298.1:p.Arg357Ter
ENST00000676912.1:c.913C>T ENSP00000503567.1:p.Arg305Ter
ENST00000676930.1:c.992+2358C>T ENSP00000502899.1:n.992+2358C>T
ENST00000676983.1:c.188C>T
ENST00000677499.1:c.1069C>T ENSP00000502875.1:p.Arg357Ter
ENST00000677549.1:n.1131C>T
ENST00000677632.1:c.1069C>T ENSP00000504586.1:p.Arg357Ter
ENST00000677641.1:c.1069C>T ENSP00000504637.1:p.Arg357Ter
ENST00000677686.1:n.3453C>T
ENST00000677831.1:c.1069C>T ENSP00000503760.1:p.Arg357Ter
ENST00000677858.1:c.133C>T
ENST00000678180.1:c.1069C>T ENSP00000504132.1:p.Arg357Ter
ENST00000678197.1:n.1052C>T
XM_005268809.1:c.1069C>T XP_005268866.1:p.Arg357Ter
XM_005268810.1:c.1069C>T XP_005268867.1:p.Arg357Ter
XR_001748674.2:n.1183C>T
XR_944524.1:n.1228C>T
XR_944525.1:n.1228C>T