Canonical Allele Identifier: CA385600515
Community Standard Title: NM_013254.4(TBK1):c.1189+1G>A
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64484500G>A , CM000674.2:g.64484500G>A GRCh38
NC_000012.11:g.64878280G>A , CM000674.1:g.64878280G>A GRCh37
NC_000012.10:g.63164547G>A NCBI36
NG_046906.1:g.37441G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1189+1G>A MANE Select NP_037386.1:n.1189+1G>A
ENST00000331710.10:c.1189+1G>A MANE Select ENSP00000329967.5:n.1189+1G>A
NM_013254.3:c.1189+1G>A NP_037386.1:n.1189+1G>A
ENST00000331710.9:c.1189+1G>A ENSP00000329967.5:n.1189+1G>A
ENST00000536906.1:n.93+1G>A
ENST00000545025.1:n.459+1G>A
ENST00000545025.2:c.312+1G>A
ENST00000650708.1:c.1065+1G>A
ENST00000650762.1:c.1033+1G>A ENSP00000498758.1:n.1033+1G>A
ENST00000650786.1:c.*1334+1G>A ENSP00000498280.1:n.*1334+1G>A
ENST00000650790.1:c.1189+1G>A ENSP00000498995.1:n.1189+1G>A
ENST00000650997.1:c.1189+1G>A ENSP00000498341.1:n.1189+1G>A
ENST00000651014.1:c.1033+1G>A ENSP00000498885.1:n.1033+1G>A
ENST00000651262.1:c.1189+1G>A ENSP00000498461.1:n.1189+1G>A
ENST00000651878.1:c.*673+1G>A ENSP00000499077.1:n.*673+1G>A
ENST00000651889.1:n.940+1G>A
ENST00000651947.1:n.1277+1G>A
ENST00000652389.1:c.1189+1G>A ENSP00000498414.1:n.1189+1G>A
ENST00000652537.1:c.1189+1G>A ENSP00000499102.1:n.1189+1G>A
ENST00000652657.1:c.1189+1G>A ENSP00000498887.1:n.1189+1G>A
ENST00000676490.1:c.197+1G>A
ENST00000676551.1:n.1288+1G>A
ENST00000676654.1:n.1318+1G>A
ENST00000676684.1:n.1318+1G>A
ENST00000676809.1:c.1189+1G>A ENSP00000504298.1:n.1189+1G>A
ENST00000676912.1:c.1033+1G>A ENSP00000503567.1:n.1033+1G>A
ENST00000676930.1:c.992+2479G>A ENSP00000502899.1:n.992+2479G>A
ENST00000677499.1:c.1189+1G>A ENSP00000502875.1:n.1189+1G>A
ENST00000677549.1:n.1252G>A
ENST00000677632.1:c.1189+1G>A ENSP00000504586.1:n.1189+1G>A
ENST00000677641.1:c.1189+1G>A ENSP00000504637.1:n.1189+1G>A
ENST00000677686.1:n.3573+1G>A
ENST00000677831.1:c.1189+1G>A ENSP00000503760.1:n.1189+1G>A
ENST00000677858.1:c.253+1G>A
ENST00000678180.1:c.1189+1G>A ENSP00000504132.1:n.1189+1G>A
ENST00000678197.1:n.1172+1G>A
XM_005268809.1:c.1189+1G>A XP_005268866.1:n.1189+1G>A
XM_005268810.1:c.1189+1G>A XP_005268867.1:n.1189+1G>A
XR_001748674.2:n.1303+1G>A
XR_944524.1:n.1348+1G>A
XR_944525.1:n.1348+1G>A