Canonical Allele Identifier: CA385605778
Community Standard Title: NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64497044G>A , CM000674.2:g.64497044G>A GRCh38
NC_000012.11:g.64890824G>A , CM000674.1:g.64890824G>A GRCh37
NC_000012.10:g.63177091G>A NCBI36
NG_046906.1:g.49985G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1856G>A MANE Select NP_037386.1:p.Trp619Ter
ENST00000331710.10:c.1856G>A MANE Select ENSP00000329967.5:p.Trp619Ter
NM_013254.3:c.1856G>A NP_037386.1:p.Trp619Ter
ENST00000331710.9:c.1856G>A ENSP00000329967.5:p.Trp619Ter
ENST00000545392.1:n.31G>A
ENST00000545392.2:n.762G>A
ENST00000650708.1:c.1897G>A
ENST00000650762.1:c.1598G>A ENSP00000498758.1:p.Trp533Ter
ENST00000650786.1:c.*2001G>A ENSP00000498280.1:n.*2001G>A
ENST00000650790.1:c.1856G>A ENSP00000498995.1:p.Trp619Ter
ENST00000650997.1:c.1856G>A ENSP00000498341.1:p.Trp619Ter
ENST00000651014.1:c.1700G>A ENSP00000498885.1:p.Trp567Ter
ENST00000651262.1:c.*123G>A ENSP00000498461.1:n.*123G>A
ENST00000651878.1:c.*1340G>A ENSP00000499077.1:n.*1340G>A
ENST00000652537.1:c.*236G>A ENSP00000499102.1:n.*236G>A
ENST00000652657.1:c.1856G>A ENSP00000498887.1:p.Trp619Ter
ENST00000676521.1:c.330G>A ENSP00000503000.1:n.330G>A
ENST00000676587.1:c.80-4286G>A
ENST00000676654.1:n.1985G>A
ENST00000676684.1:n.2576G>A
ENST00000676809.1:c.*545G>A ENSP00000504298.1:n.*545G>A
ENST00000676912.1:c.1700G>A ENSP00000503567.1:p.Trp567Ter
ENST00000676930.1:c.1508G>A ENSP00000502899.1:p.Trp503Ter
ENST00000677499.1:c.*236G>A ENSP00000502875.1:n.*236G>A
ENST00000677632.1:c.1841G>A ENSP00000504586.1:p.Trp614Ter
ENST00000677641.1:c.1853G>A ENSP00000504637.1:p.Trp618Ter
ENST00000677686.1:n.4925G>A
ENST00000677831.1:c.*236G>A ENSP00000503760.1:n.*236G>A
ENST00000678180.1:c.1754G>A ENSP00000504132.1:p.Trp585Ter
ENST00000678197.1:n.1839G>A
ENST00000678567.1:c.406G>A
XM_005268809.1:c.1856G>A XP_005268866.1:p.Trp619Ter
XM_005268810.1:c.1856G>A XP_005268867.1:p.Trp619Ter
XR_001748674.2:n.2078G>A