Canonical Allele Identifier: CA6668978
Community Standard Title: NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64484461G>A , CM000674.2:g.64484461G>A GRCh38
NC_000012.11:g.64878241G>A , CM000674.1:g.64878241G>A GRCh37
NC_000012.10:g.63164508G>A NCBI36
NG_046906.1:g.37402G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1151G>A MANE Select NP_037386.1:p.Arg384Gln
ENST00000331710.10:c.1151G>A MANE Select ENSP00000329967.5:p.Arg384Gln
NM_013254.3:c.1151G>A NP_037386.1:p.Arg384Gln
ENST00000331710.9:c.1151G>A ENSP00000329967.5:p.Arg384Gln
ENST00000536906.1:n.55G>A
ENST00000545025.1:n.421G>A
ENST00000545025.2:c.274G>A
ENST00000650708.1:c.1027G>A
ENST00000650762.1:c.995G>A ENSP00000498758.1:p.Arg332Gln
ENST00000650786.1:c.*1296G>A ENSP00000498280.1:n.*1296G>A
ENST00000650790.1:c.1151G>A ENSP00000498995.1:p.Arg384Gln
ENST00000650997.1:c.1151G>A ENSP00000498341.1:p.Arg384Gln
ENST00000651014.1:c.995G>A ENSP00000498885.1:p.Arg332Gln
ENST00000651262.1:c.1151G>A ENSP00000498461.1:p.Arg384Gln
ENST00000651878.1:c.*635G>A ENSP00000499077.1:n.*635G>A
ENST00000651889.1:n.902G>A
ENST00000651947.1:n.1239G>A
ENST00000652389.1:c.1151G>A ENSP00000498414.1:p.Arg384Gln
ENST00000652537.1:c.1151G>A ENSP00000499102.1:p.Arg384Gln
ENST00000652657.1:c.1151G>A ENSP00000498887.1:p.Arg384Gln
ENST00000676490.1:c.159G>A
ENST00000676551.1:n.1250G>A
ENST00000676654.1:n.1280G>A
ENST00000676684.1:n.1280G>A
ENST00000676809.1:c.1151G>A ENSP00000504298.1:p.Arg384Gln
ENST00000676912.1:c.995G>A ENSP00000503567.1:p.Arg332Gln
ENST00000676930.1:c.992+2440G>A ENSP00000502899.1:n.992+2440G>A
ENST00000676983.1:c.270G>A
ENST00000677499.1:c.1151G>A ENSP00000502875.1:p.Arg384Gln
ENST00000677549.1:n.1213G>A
ENST00000677632.1:c.1151G>A ENSP00000504586.1:p.Arg384Gln
ENST00000677641.1:c.1151G>A ENSP00000504637.1:p.Arg384Gln
ENST00000677686.1:n.3535G>A
ENST00000677831.1:c.1151G>A ENSP00000503760.1:p.Arg384Gln
ENST00000677858.1:c.215G>A
ENST00000678180.1:c.1151G>A ENSP00000504132.1:p.Arg384Gln
ENST00000678197.1:n.1134G>A
XM_005268809.1:c.1151G>A XP_005268866.1:p.Arg384Gln
XM_005268810.1:c.1151G>A XP_005268867.1:p.Arg384Gln
XR_001748674.2:n.1265G>A
XR_944524.1:n.1310G>A
XR_944525.1:n.1310G>A