Canonical Allele Identifier: CA6669199

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64497257G>C , CM000674.2:g.64497257G>C	GRCh38
NC_000012.11:g.64891037G>C , CM000674.1:g.64891037G>C	GRCh37
NC_000012.10:g.63177304G>C	NCBI36
NG_046906.1:g.50198G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.1957G>C MANE Select	NP_037386.1:p.Glu653Gln
ENST00000331710.10:c.1957G>C MANE Select	ENSP00000329967.5:p.Glu653Gln
NM_013254.3:c.1957G>C	NP_037386.1:p.Glu653Gln
ENST00000331710.9:c.1957G>C	ENSP00000329967.5:p.Glu653Gln
ENST00000545392.1:n.132G>C
ENST00000545392.2:n.863G>C
ENST00000650708.1:c.1994G>C
ENST00000650762.1:c.1699G>C	ENSP00000498758.1:p.Glu567Gln
ENST00000650786.1:c.*2102G>C	ENSP00000498280.1:n.*2102G>C
ENST00000650790.1:c.1957G>C	ENSP00000498995.1:p.Glu653Gln
ENST00000650997.1:c.1957G>C	ENSP00000498341.1:p.Glu653Gln
ENST00000651014.1:c.1801G>C	ENSP00000498885.1:p.Glu601Gln
ENST00000651262.1:c.*224G>C	ENSP00000498461.1:n.*224G>C
ENST00000651878.1:c.*1441G>C	ENSP00000499077.1:n.*1441G>C
ENST00000652537.1:c.*337G>C	ENSP00000499102.1:n.*337G>C
ENST00000652657.1:c.1957G>C	ENSP00000498887.1:p.Glu653Gln
ENST00000676521.1:c.431G>C	ENSP00000503000.1:n.431G>C
ENST00000676587.1:c.80-4073G>C
ENST00000676654.1:n.2086G>C
ENST00000676684.1:n.2677G>C
ENST00000676809.1:c.*646G>C	ENSP00000504298.1:n.*646G>C
ENST00000676912.1:c.1801G>C	ENSP00000503567.1:p.Glu601Gln
ENST00000676930.1:c.1609G>C	ENSP00000502899.1:p.Glu537Gln
ENST00000677499.1:c.*333G>C	ENSP00000502875.1:n.*333G>C
ENST00000677632.1:c.1942G>C	ENSP00000504586.1:p.Glu648Gln
ENST00000677641.1:c.1954G>C	ENSP00000504637.1:p.Glu652Gln
ENST00000677686.1:n.5026G>C
ENST00000677831.1:c.*337G>C	ENSP00000503760.1:n.*337G>C
ENST00000678180.1:c.1855G>C	ENSP00000504132.1:p.Glu619Gln
ENST00000678197.1:n.1940G>C
ENST00000678567.1:c.507G>C
XM_005268809.1:c.1957G>C	XP_005268866.1:p.Glu653Gln
XM_005268810.1:c.1957G>C	XP_005268867.1:p.Glu653Gln
XR_001748674.2:n.2179G>C