Canonical Allele Identifier: CA6669258

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64498001G>T , CM000674.2:g.64498001G>T	GRCh38
NC_000012.11:g.64891781G>T , CM000674.1:g.64891781G>T	GRCh37
NC_000012.10:g.63178048G>T	NCBI36
NG_046906.1:g.50942G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.2100G>T MANE Select	NP_037386.1:p.Val700=
ENST00000331710.10:c.2100G>T MANE Select	ENSP00000329967.5:p.Val700=
NM_013254.3:c.2100G>T	NP_037386.1:p.Val700=
ENST00000331710.9:c.2100G>T	ENSP00000329967.5:p.Val700=
ENST00000545392.2:n.1006G>T
ENST00000650708.1:c.2137G>T
ENST00000650762.1:c.1842G>T	ENSP00000498758.1:p.Val614=
ENST00000650786.1:c.*2245G>T	ENSP00000498280.1:n.*2245G>T
ENST00000650790.1:c.2100G>T	ENSP00000498995.1:p.Val700=
ENST00000650997.1:c.2100G>T	ENSP00000498341.1:p.Val700=
ENST00000651014.1:c.1944G>T	ENSP00000498885.1:p.Val648=
ENST00000651262.1:c.*367G>T	ENSP00000498461.1:n.*367G>T
ENST00000651878.1:c.*1584G>T	ENSP00000499077.1:n.*1584G>T
ENST00000652537.1:c.*480G>T	ENSP00000499102.1:n.*480G>T
ENST00000652657.1:c.2066+247G>T	ENSP00000498887.1:n.2066+247G>T
ENST00000676587.1:c.80-3329G>T
ENST00000676593.1:c.34G>T
ENST00000676654.1:n.2442G>T
ENST00000676684.1:n.2820G>T
ENST00000676809.1:c.*789G>T	ENSP00000504298.1:n.*789G>T
ENST00000676912.1:c.1944G>T	ENSP00000503567.1:p.Val648=
ENST00000676930.1:c.1752G>T	ENSP00000502899.1:p.Val584=
ENST00000677313.1:c.34G>T
ENST00000677499.1:c.*476G>T	ENSP00000502875.1:n.*476G>T
ENST00000677632.1:c.2085G>T	ENSP00000504586.1:p.Val695=
ENST00000677641.1:c.2097G>T	ENSP00000504637.1:p.Val699=
ENST00000677686.1:n.5169G>T
ENST00000677831.1:c.*480G>T	ENSP00000503760.1:n.*480G>T
ENST00000678180.1:c.1998G>T	ENSP00000504132.1:p.Val666=
ENST00000678197.1:n.2083G>T
XM_005268809.1:c.2100G>T	XP_005268866.1:p.Val700=
XM_005268810.1:c.2100G>T	XP_005268867.1:p.Val700=
XR_001748674.2:n.2322G>T