Canonical Allele Identifier: CA385606473
Community Standard Title: NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64497234C>G , CM000674.2:g.64497234C>G GRCh38
NC_000012.11:g.64891014C>G , CM000674.1:g.64891014C>G GRCh37
NC_000012.10:g.63177281C>G NCBI36
NG_046906.1:g.50175C>G

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1934C>G MANE Select NP_037386.1:p.Ser645Ter
ENST00000331710.10:c.1934C>G MANE Select ENSP00000329967.5:p.Ser645Ter
NM_013254.3:c.1934C>G NP_037386.1:p.Ser645Ter
ENST00000331710.9:c.1934C>G ENSP00000329967.5:p.Ser645Ter
ENST00000545392.1:n.109C>G
ENST00000545392.2:n.840C>G
ENST00000650708.1:c.1971C>G
ENST00000650762.1:c.1676C>G ENSP00000498758.1:p.Ser559Ter
ENST00000650786.1:c.*2079C>G ENSP00000498280.1:n.*2079C>G
ENST00000650790.1:c.1934C>G ENSP00000498995.1:p.Ser645Ter
ENST00000650997.1:c.1934C>G ENSP00000498341.1:p.Ser645Ter
ENST00000651014.1:c.1778C>G ENSP00000498885.1:p.Ser593Ter
ENST00000651262.1:c.*201C>G ENSP00000498461.1:n.*201C>G
ENST00000651878.1:c.*1418C>G ENSP00000499077.1:n.*1418C>G
ENST00000652537.1:c.*314C>G ENSP00000499102.1:n.*314C>G
ENST00000652657.1:c.1934C>G ENSP00000498887.1:p.Ser645Ter
ENST00000676521.1:c.408C>G ENSP00000503000.1:n.408C>G
ENST00000676587.1:c.80-4096C>G
ENST00000676654.1:n.2063C>G
ENST00000676684.1:n.2654C>G
ENST00000676809.1:c.*623C>G ENSP00000504298.1:n.*623C>G
ENST00000676912.1:c.1778C>G ENSP00000503567.1:p.Ser593Ter
ENST00000676930.1:c.1586C>G ENSP00000502899.1:p.Ser529Ter
ENST00000677499.1:c.*310C>G ENSP00000502875.1:n.*310C>G
ENST00000677632.1:c.1919C>G ENSP00000504586.1:p.Ser640Ter
ENST00000677641.1:c.1931C>G ENSP00000504637.1:p.Ser644Ter
ENST00000677686.1:n.5003C>G
ENST00000677831.1:c.*314C>G ENSP00000503760.1:n.*314C>G
ENST00000678180.1:c.1832C>G ENSP00000504132.1:p.Ser611Ter
ENST00000678197.1:n.1917C>G
ENST00000678567.1:c.484C>G
XM_005268809.1:c.1934C>G XP_005268866.1:p.Ser645Ter
XM_005268810.1:c.1934C>G XP_005268867.1:p.Ser645Ter
XR_001748674.2:n.2156C>G