Canonical Allele Identifier: CA385594276

Gene: TBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64460202T>A , CM000674.2:g.64460202T>A	GRCh38
NC_000012.11:g.64853982T>A , CM000674.1:g.64853982T>A	GRCh37
NC_000012.10:g.63140249T>A	NCBI36
NG_046906.1:g.13143T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013254.4:c.101T>A MANE Select	NP_037386.1:p.Leu34Ter
ENST00000331710.10:c.101T>A MANE Select	ENSP00000329967.5:p.Leu34Ter
NM_013254.3:c.101T>A	NP_037386.1:p.Leu34Ter
ENST00000331710.9:c.101T>A	ENSP00000329967.5:p.Leu34Ter
ENST00000538890.5:c.101T>A	ENSP00000445834.1:p.Leu34Ter
ENST00000539810.1:c.-56T>A	ENSP00000444428.1:n.-56T>A
ENST00000540417.1:c.101T>A	ENSP00000445628.1:p.Leu34Ter
ENST00000650762.1:c.-56T>A	ENSP00000498758.1:n.-56T>A
ENST00000650786.1:c.*246T>A	ENSP00000498280.1:n.*246T>A
ENST00000650790.1:c.101T>A	ENSP00000498995.1:p.Leu34Ter
ENST00000650997.1:c.101T>A	ENSP00000498341.1:p.Leu34Ter
ENST00000651014.1:c.-56T>A	ENSP00000498885.1:n.-56T>A
ENST00000651262.1:c.101T>A	ENSP00000498461.1:p.Leu34Ter
ENST00000651878.1:c.101T>A	ENSP00000499077.1:p.Leu34Ter
ENST00000651947.1:n.189T>A
ENST00000652389.1:c.101T>A	ENSP00000498414.1:p.Leu34Ter
ENST00000652537.1:c.101T>A	ENSP00000499102.1:p.Leu34Ter
ENST00000652657.1:c.101T>A	ENSP00000498887.1:p.Leu34Ter
ENST00000676469.1:c.88-4132T>A	ENSP00000503155.1:n.88-4132T>A
ENST00000676551.1:n.200T>A
ENST00000676654.1:n.230T>A
ENST00000676684.1:n.230T>A
ENST00000676809.1:c.101T>A	ENSP00000504298.1:p.Leu34Ter
ENST00000676912.1:c.-11-45T>A	ENSP00000503567.1:n.-11-45T>A
ENST00000676930.1:c.101T>A	ENSP00000502899.1:p.Leu34Ter
ENST00000677499.1:c.101T>A	ENSP00000502875.1:p.Leu34Ter
ENST00000677545.1:c.-56T>A	ENSP00000504729.1:n.-56T>A
ENST00000677549.1:n.163T>A
ENST00000677632.1:c.101T>A	ENSP00000504586.1:p.Leu34Ter
ENST00000677641.1:c.101T>A	ENSP00000504637.1:p.Leu34Ter
ENST00000677686.1:n.204T>A
ENST00000677831.1:c.101T>A	ENSP00000503760.1:p.Leu34Ter
ENST00000678180.1:c.101T>A	ENSP00000504132.1:p.Leu34Ter
ENST00000678197.1:n.85T>A
ENST00000678430.1:n.200T>A
ENST00000679050.1:c.14T>A	ENSP00000503595.1:p.Leu5Ter
XM_005268809.1:c.101T>A	XP_005268866.1:p.Leu34Ter
XM_005268810.1:c.101T>A	XP_005268867.1:p.Leu34Ter
XR_001748674.2:n.215T>A
XR_944524.1:n.260T>A
XR_944525.1:n.260T>A