Canonical Allele Identifier: CA385599596
Community Standard Title: NM_013254.4(TBK1):c.992+1G>A
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64482022G>A , CM000674.2:g.64482022G>A GRCh38
NC_000012.11:g.64875802G>A , CM000674.1:g.64875802G>A GRCh37
NC_000012.10:g.63162069G>A NCBI36
NG_046906.1:g.34963G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.992+1G>A MANE Select NP_037386.1:n.992+1G>A
ENST00000331710.10:c.992+1G>A MANE Select ENSP00000329967.5:n.992+1G>A
NM_013254.3:c.992+1G>A NP_037386.1:n.992+1G>A
ENST00000331710.9:c.992+1G>A ENSP00000329967.5:n.992+1G>A
ENST00000545025.2:c.115+66G>A
ENST00000650708.1:c.868+1G>A
ENST00000650762.1:c.836+1G>A ENSP00000498758.1:n.836+1G>A
ENST00000650786.1:c.*1137+1G>A ENSP00000498280.1:n.*1137+1G>A
ENST00000650790.1:c.992+1G>A ENSP00000498995.1:n.992+1G>A
ENST00000650997.1:c.992+1G>A ENSP00000498341.1:n.992+1G>A
ENST00000651014.1:c.836+1G>A ENSP00000498885.1:n.836+1G>A
ENST00000651262.1:c.992+1G>A ENSP00000498461.1:n.992+1G>A
ENST00000651878.1:c.*476+1G>A ENSP00000499077.1:n.*476+1G>A
ENST00000651889.1:n.743+1G>A
ENST00000651947.1:n.1080+1G>A
ENST00000652389.1:c.992+1G>A ENSP00000498414.1:n.992+1G>A
ENST00000652537.1:c.992+1G>A ENSP00000499102.1:n.992+1G>A
ENST00000652657.1:c.992+1G>A ENSP00000498887.1:n.992+1G>A
ENST00000676551.1:n.1091+1G>A
ENST00000676654.1:n.1121+1G>A
ENST00000676684.1:n.1121+1G>A
ENST00000676809.1:c.992+1G>A ENSP00000504298.1:n.992+1G>A
ENST00000676912.1:c.836+1G>A ENSP00000503567.1:n.836+1G>A
ENST00000676930.1:c.992+1G>A ENSP00000502899.1:n.992+1G>A
ENST00000676983.1:c.111+1900G>A
ENST00000677499.1:c.992+1G>A ENSP00000502875.1:n.992+1G>A
ENST00000677549.1:n.1054+1G>A
ENST00000677632.1:c.992+1G>A ENSP00000504586.1:n.992+1G>A
ENST00000677641.1:c.992+1G>A ENSP00000504637.1:n.992+1G>A
ENST00000677670.1:n.115+66G>A
ENST00000677686.1:n.1096G>A
ENST00000677831.1:c.992+1G>A ENSP00000503760.1:n.992+1G>A
ENST00000677858.1:c.115+66G>A
ENST00000678180.1:c.992+1G>A ENSP00000504132.1:n.992+1G>A
ENST00000678197.1:n.975+1G>A
ENST00000678235.1:n.180+1G>A
XM_005268809.1:c.992+1G>A XP_005268866.1:n.992+1G>A
XM_005268810.1:c.992+1G>A XP_005268867.1:n.992+1G>A
XR_001748674.2:n.1106+1G>A
XR_944524.1:n.1151+1G>A
XR_944525.1:n.1151+1G>A