Canonical Allele Identifier: CA385599317
Community Standard Title: NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64481951C>T , CM000674.2:g.64481951C>T GRCh38
NC_000012.11:g.64875731C>T , CM000674.1:g.64875731C>T GRCh37
NC_000012.10:g.63161998C>T NCBI36
NG_046906.1:g.34892C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.922C>T MANE Select NP_037386.1:p.Arg308Ter
ENST00000331710.10:c.922C>T MANE Select ENSP00000329967.5:p.Arg308Ter
NM_013254.3:c.922C>T NP_037386.1:p.Arg308Ter
ENST00000331710.9:c.922C>T ENSP00000329967.5:p.Arg308Ter
ENST00000545025.2:c.110C>T
ENST00000650708.1:c.798C>T
ENST00000650762.1:c.766C>T ENSP00000498758.1:p.Arg256Ter
ENST00000650786.1:c.*1067C>T ENSP00000498280.1:n.*1067C>T
ENST00000650790.1:c.922C>T ENSP00000498995.1:p.Arg308Ter
ENST00000650997.1:c.922C>T ENSP00000498341.1:p.Arg308Ter
ENST00000651014.1:c.766C>T ENSP00000498885.1:p.Arg256Ter
ENST00000651262.1:c.922C>T ENSP00000498461.1:p.Arg308Ter
ENST00000651878.1:c.*406C>T ENSP00000499077.1:n.*406C>T
ENST00000651889.1:n.673C>T
ENST00000651947.1:n.1010C>T
ENST00000652389.1:c.922C>T ENSP00000498414.1:p.Arg308Ter
ENST00000652537.1:c.922C>T ENSP00000499102.1:p.Arg308Ter
ENST00000652657.1:c.922C>T ENSP00000498887.1:p.Arg308Ter
ENST00000676551.1:n.1021C>T
ENST00000676654.1:n.1051C>T
ENST00000676684.1:n.1051C>T
ENST00000676809.1:c.922C>T ENSP00000504298.1:p.Arg308Ter
ENST00000676912.1:c.766C>T ENSP00000503567.1:p.Arg256Ter
ENST00000676930.1:c.922C>T ENSP00000502899.1:p.Arg308Ter
ENST00000676983.1:c.111+1829C>T
ENST00000677499.1:c.922C>T ENSP00000502875.1:p.Arg308Ter
ENST00000677549.1:n.984C>T
ENST00000677632.1:c.922C>T ENSP00000504586.1:p.Arg308Ter
ENST00000677641.1:c.922C>T ENSP00000504637.1:p.Arg308Ter
ENST00000677670.1:n.110C>T
ENST00000677686.1:n.1025C>T
ENST00000677831.1:c.922C>T ENSP00000503760.1:p.Arg308Ter
ENST00000677858.1:c.110C>T
ENST00000677973.1:c.403C>T
ENST00000678180.1:c.922C>T ENSP00000504132.1:p.Arg308Ter
ENST00000678197.1:n.905C>T
ENST00000678235.1:n.110C>T
XM_005268809.1:c.922C>T XP_005268866.1:p.Arg308Ter
XM_005268810.1:c.922C>T XP_005268867.1:p.Arg308Ter
XR_001748674.2:n.1036C>T
XR_944524.1:n.1081C>T
XR_944525.1:n.1081C>T