Canonical Allele Identifier: CA385603171

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64490094C>G , CM000674.2:g.64490094C>G	GRCh38
NC_000012.11:g.64883874C>G , CM000674.1:g.64883874C>G	GRCh37
NC_000012.10:g.63170141C>G	NCBI36
NG_046906.1:g.43035C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.1496C>G MANE Select	NP_037386.1:p.Ser499Ter
ENST00000331710.10:c.1496C>G MANE Select	ENSP00000329967.5:p.Ser499Ter
NM_013254.3:c.1496C>G	NP_037386.1:p.Ser499Ter
ENST00000331710.9:c.1496C>G	ENSP00000329967.5:p.Ser499Ter
ENST00000650708.1:c.1372C>G
ENST00000650762.1:c.1238C>G	ENSP00000498758.1:p.Ser413Ter
ENST00000650786.1:c.*1641C>G	ENSP00000498280.1:n.*1641C>G
ENST00000650790.1:c.1496C>G	ENSP00000498995.1:p.Ser499Ter
ENST00000650997.1:c.1496C>G	ENSP00000498341.1:p.Ser499Ter
ENST00000651014.1:c.1340C>G	ENSP00000498885.1:p.Ser447Ter
ENST00000651262.1:c.1496C>G	ENSP00000498461.1:p.Ser499Ter
ENST00000651878.1:c.*980C>G	ENSP00000499077.1:n.*980C>G
ENST00000651889.1:n.1215C>G
ENST00000651947.1:n.1584C>G
ENST00000652389.1:c.1496C>G	ENSP00000498414.1:p.Ser499Ter
ENST00000652537.1:c.1496C>G	ENSP00000499102.1:p.Ser499Ter
ENST00000652657.1:c.1496C>G	ENSP00000498887.1:p.Ser499Ter
ENST00000676490.1:c.413C>G
ENST00000676539.1:c.275C>G
ENST00000676551.1:n.1595C>G
ENST00000676587.1:c.54C>G
ENST00000676654.1:n.1625C>G
ENST00000676684.1:n.1625C>G
ENST00000676774.1:n.351C>G
ENST00000676809.1:c.1496C>G	ENSP00000504298.1:p.Ser499Ter
ENST00000676912.1:c.1340C>G	ENSP00000503567.1:p.Ser447Ter
ENST00000676930.1:c.1148C>G	ENSP00000502899.1:p.Ser383Ter
ENST00000677435.1:c.102+1506C>G
ENST00000677499.1:c.1496C>G	ENSP00000502875.1:p.Ser499Ter
ENST00000677632.1:c.1496C>G	ENSP00000504586.1:p.Ser499Ter
ENST00000677641.1:c.1496C>G	ENSP00000504637.1:p.Ser499Ter
ENST00000677686.1:n.3880C>G
ENST00000677831.1:c.1394C>G	ENSP00000503760.1:p.Ser465Ter
ENST00000678180.1:c.1394C>G	ENSP00000504132.1:p.Ser465Ter
ENST00000678197.1:n.1479C>G
ENST00000678567.1:c.54C>G
ENST00000679010.1:n.678C>G
XM_005268809.1:c.1496C>G	XP_005268866.1:p.Ser499Ter
XM_005268810.1:c.1496C>G	XP_005268867.1:p.Ser499Ter
XR_001748674.2:n.1610C>G
XR_944524.1:n.1655C>G
XR_944525.1:n.1655C>G