Canonical Allele Identifier: CA385607702

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64498008G>T , CM000674.2:g.64498008G>T	GRCh38
NC_000012.11:g.64891788G>T , CM000674.1:g.64891788G>T	GRCh37
NC_000012.10:g.63178055G>T	NCBI36
NG_046906.1:g.50949G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.2107G>T MANE Select	NP_037386.1:p.Glu703Ter
ENST00000331710.10:c.2107G>T MANE Select	ENSP00000329967.5:p.Glu703Ter
NM_013254.3:c.2107G>T	NP_037386.1:p.Glu703Ter
ENST00000331710.9:c.2107G>T	ENSP00000329967.5:p.Glu703Ter
ENST00000545392.2:n.1013G>T
ENST00000650708.1:c.2144G>T
ENST00000650762.1:c.1849G>T	ENSP00000498758.1:p.Glu617Ter
ENST00000650786.1:c.*2252G>T	ENSP00000498280.1:n.*2252G>T
ENST00000650790.1:c.2107G>T	ENSP00000498995.1:p.Glu703Ter
ENST00000650997.1:c.2107G>T	ENSP00000498341.1:p.Glu703Ter
ENST00000651014.1:c.1951G>T	ENSP00000498885.1:p.Glu651Ter
ENST00000651262.1:c.*374G>T	ENSP00000498461.1:n.*374G>T
ENST00000651878.1:c.*1591G>T	ENSP00000499077.1:n.*1591G>T
ENST00000652537.1:c.*487G>T	ENSP00000499102.1:n.*487G>T
ENST00000652657.1:c.2066+254G>T	ENSP00000498887.1:n.2066+254G>T
ENST00000676587.1:c.80-3322G>T
ENST00000676593.1:c.41G>T
ENST00000676654.1:n.2449G>T
ENST00000676684.1:n.2827G>T
ENST00000676809.1:c.*796G>T	ENSP00000504298.1:n.*796G>T
ENST00000676912.1:c.1951G>T	ENSP00000503567.1:p.Glu651Ter
ENST00000676930.1:c.1759G>T	ENSP00000502899.1:p.Glu587Ter
ENST00000677313.1:c.41G>T
ENST00000677499.1:c.*483G>T	ENSP00000502875.1:n.*483G>T
ENST00000677632.1:c.2092G>T	ENSP00000504586.1:p.Glu698Ter
ENST00000677641.1:c.2104G>T	ENSP00000504637.1:p.Glu702Ter
ENST00000677686.1:n.5176G>T
ENST00000677831.1:c.*487G>T	ENSP00000503760.1:n.*487G>T
ENST00000678180.1:c.2005G>T	ENSP00000504132.1:p.Glu669Ter
ENST00000678197.1:n.2090G>T
XM_005268809.1:c.2107G>T	XP_005268866.1:p.Glu703Ter
XM_005268810.1:c.2107G>T	XP_005268867.1:p.Glu703Ter
XR_001748674.2:n.2329G>T