Canonical Allele Identifier: CA385606855
Community Standard Title: NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64497666C>T , CM000674.2:g.64497666C>T GRCh38
NC_000012.11:g.64891446C>T , CM000674.1:g.64891446C>T GRCh37
NC_000012.10:g.63177713C>T NCBI36
NG_046906.1:g.50607C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1978C>T MANE Select NP_037386.1:p.Gln660Ter
ENST00000331710.10:c.1978C>T MANE Select ENSP00000329967.5:p.Gln660Ter
NM_013254.3:c.1978C>T NP_037386.1:p.Gln660Ter
ENST00000331710.9:c.1978C>T ENSP00000329967.5:p.Gln660Ter
ENST00000545392.1:n.153C>T
ENST00000545392.2:n.884C>T
ENST00000650708.1:c.2015C>T
ENST00000650762.1:c.1720C>T ENSP00000498758.1:p.Gln574Ter
ENST00000650786.1:c.*2123C>T ENSP00000498280.1:n.*2123C>T
ENST00000650790.1:c.1978C>T ENSP00000498995.1:p.Gln660Ter
ENST00000650997.1:c.1978C>T ENSP00000498341.1:p.Gln660Ter
ENST00000651014.1:c.1822C>T ENSP00000498885.1:p.Gln608Ter
ENST00000651262.1:c.*245C>T ENSP00000498461.1:n.*245C>T
ENST00000651878.1:c.*1462C>T ENSP00000499077.1:n.*1462C>T
ENST00000652537.1:c.*358C>T ENSP00000499102.1:n.*358C>T
ENST00000652657.1:c.1978C>T ENSP00000498887.1:p.Gln660Ter
ENST00000676587.1:c.80-3664C>T
ENST00000676654.1:n.2107C>T
ENST00000676684.1:n.2698C>T
ENST00000676809.1:c.*667C>T ENSP00000504298.1:n.*667C>T
ENST00000676912.1:c.1822C>T ENSP00000503567.1:p.Gln608Ter
ENST00000676930.1:c.1630C>T ENSP00000502899.1:p.Gln544Ter
ENST00000677499.1:c.*354C>T ENSP00000502875.1:n.*354C>T
ENST00000677632.1:c.1963C>T ENSP00000504586.1:p.Gln655Ter
ENST00000677641.1:c.1975C>T ENSP00000504637.1:p.Gln659Ter
ENST00000677686.1:n.5047C>T
ENST00000677831.1:c.*358C>T ENSP00000503760.1:n.*358C>T
ENST00000678180.1:c.1876C>T ENSP00000504132.1:p.Gln626Ter
ENST00000678197.1:n.1961C>T
XM_005268809.1:c.1978C>T XP_005268866.1:p.Gln660Ter
XM_005268810.1:c.1978C>T XP_005268867.1:p.Gln660Ter
XR_001748674.2:n.2200C>T