Canonical Allele Identifier: CA385607624

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64497996G>C , CM000674.2:g.64497996G>C	GRCh38
NC_000012.11:g.64891776G>C , CM000674.1:g.64891776G>C	GRCh37
NC_000012.10:g.63178043G>C	NCBI36
NG_046906.1:g.50937G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.2095G>C MANE Select	NP_037386.1:p.Gly699Arg
ENST00000331710.10:c.2095G>C MANE Select	ENSP00000329967.5:p.Gly699Arg
NM_013254.3:c.2095G>C	NP_037386.1:p.Gly699Arg
ENST00000331710.9:c.2095G>C	ENSP00000329967.5:p.Gly699Arg
ENST00000545392.2:n.1001G>C
ENST00000650708.1:c.2132G>C
ENST00000650762.1:c.1837G>C	ENSP00000498758.1:p.Gly613Arg
ENST00000650786.1:c.*2240G>C	ENSP00000498280.1:n.*2240G>C
ENST00000650790.1:c.2095G>C	ENSP00000498995.1:p.Gly699Arg
ENST00000650997.1:c.2095G>C	ENSP00000498341.1:p.Gly699Arg
ENST00000651014.1:c.1939G>C	ENSP00000498885.1:p.Gly647Arg
ENST00000651262.1:c.*362G>C	ENSP00000498461.1:n.*362G>C
ENST00000651878.1:c.*1579G>C	ENSP00000499077.1:n.*1579G>C
ENST00000652537.1:c.*475G>C	ENSP00000499102.1:n.*475G>C
ENST00000652657.1:c.2066+242G>C	ENSP00000498887.1:n.2066+242G>C
ENST00000676587.1:c.80-3334G>C
ENST00000676593.1:c.29G>C
ENST00000676654.1:n.2437G>C
ENST00000676684.1:n.2815G>C
ENST00000676809.1:c.*784G>C	ENSP00000504298.1:n.*784G>C
ENST00000676912.1:c.1939G>C	ENSP00000503567.1:p.Gly647Arg
ENST00000676930.1:c.1747G>C	ENSP00000502899.1:p.Gly583Arg
ENST00000677313.1:c.29G>C
ENST00000677499.1:c.*471G>C	ENSP00000502875.1:n.*471G>C
ENST00000677632.1:c.2080G>C	ENSP00000504586.1:p.Gly694Arg
ENST00000677641.1:c.2092G>C	ENSP00000504637.1:p.Gly698Arg
ENST00000677686.1:n.5164G>C
ENST00000677831.1:c.*475G>C	ENSP00000503760.1:n.*475G>C
ENST00000678180.1:c.1993G>C	ENSP00000504132.1:p.Gly665Arg
ENST00000678197.1:n.2078G>C
XM_005268809.1:c.2095G>C	XP_005268866.1:p.Gly699Arg
XM_005268810.1:c.2095G>C	XP_005268867.1:p.Gly699Arg
XR_001748674.2:n.2317G>C