Canonical Allele Identifier: CA6668963

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64484380G>A , CM000674.2:g.64484380G>A	GRCh38
NC_000012.11:g.64878160G>A , CM000674.1:g.64878160G>A	GRCh37
NC_000012.10:g.63164427G>A	NCBI36
NG_046906.1:g.37321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.1070G>A MANE Select	NP_037386.1:p.Arg357Gln
ENST00000331710.10:c.1070G>A MANE Select	ENSP00000329967.5:p.Arg357Gln
NM_013254.3:c.1070G>A	NP_037386.1:p.Arg357Gln
ENST00000331710.9:c.1070G>A	ENSP00000329967.5:p.Arg357Gln
ENST00000545025.1:n.340G>A
ENST00000545025.2:c.193G>A
ENST00000650708.1:c.946G>A
ENST00000650762.1:c.914G>A	ENSP00000498758.1:p.Arg305Gln
ENST00000650786.1:c.*1215G>A	ENSP00000498280.1:n.*1215G>A
ENST00000650790.1:c.1070G>A	ENSP00000498995.1:p.Arg357Gln
ENST00000650997.1:c.1070G>A	ENSP00000498341.1:p.Arg357Gln
ENST00000651014.1:c.914G>A	ENSP00000498885.1:p.Arg305Gln
ENST00000651262.1:c.1070G>A	ENSP00000498461.1:p.Arg357Gln
ENST00000651878.1:c.*554G>A	ENSP00000499077.1:n.*554G>A
ENST00000651889.1:n.821G>A
ENST00000651947.1:n.1158G>A
ENST00000652389.1:c.1070G>A	ENSP00000498414.1:p.Arg357Gln
ENST00000652537.1:c.1070G>A	ENSP00000499102.1:p.Arg357Gln
ENST00000652657.1:c.1070G>A	ENSP00000498887.1:p.Arg357Gln
ENST00000676490.1:c.78G>A
ENST00000676551.1:n.1169G>A
ENST00000676654.1:n.1199G>A
ENST00000676684.1:n.1199G>A
ENST00000676809.1:c.1070G>A	ENSP00000504298.1:p.Arg357Gln
ENST00000676912.1:c.914G>A	ENSP00000503567.1:p.Arg305Gln
ENST00000676930.1:c.992+2359G>A	ENSP00000502899.1:n.992+2359G>A
ENST00000676983.1:c.189G>A
ENST00000677499.1:c.1070G>A	ENSP00000502875.1:p.Arg357Gln
ENST00000677549.1:n.1132G>A
ENST00000677632.1:c.1070G>A	ENSP00000504586.1:p.Arg357Gln
ENST00000677641.1:c.1070G>A	ENSP00000504637.1:p.Arg357Gln
ENST00000677686.1:n.3454G>A
ENST00000677831.1:c.1070G>A	ENSP00000503760.1:p.Arg357Gln
ENST00000677858.1:c.134G>A
ENST00000678180.1:c.1070G>A	ENSP00000504132.1:p.Arg357Gln
ENST00000678197.1:n.1053G>A
XM_005268809.1:c.1070G>A	XP_005268866.1:p.Arg357Gln
XM_005268810.1:c.1070G>A	XP_005268867.1:p.Arg357Gln
XR_001748674.2:n.1184G>A
XR_944524.1:n.1229G>A
XR_944525.1:n.1229G>A