Canonical Allele Identifier: CA385604526
Community Standard Title: NM_013254.4(TBK1):c.1644-2A>T
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64495697A>T , CM000674.2:g.64495697A>T GRCh38
NC_000012.11:g.64889477A>T , CM000674.1:g.64889477A>T GRCh37
NC_000012.10:g.63175744A>T NCBI36
NG_046906.1:g.48638A>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1644-2A>T MANE Select NP_037386.1:n.1644-2A>T
ENST00000331710.10:c.1644-2A>T MANE Select ENSP00000329967.5:n.1644-2A>T
NM_013254.3:c.1644-2A>T NP_037386.1:n.1644-2A>T
ENST00000331710.9:c.1644-2A>T ENSP00000329967.5:n.1644-2A>T
ENST00000541805.1:n.238-2A>T
ENST00000541805.2:n.677-2A>T
ENST00000545392.2:n.550-2A>T
ENST00000650708.1:c.1520-2A>T
ENST00000650762.1:c.1386-2A>T ENSP00000498758.1:n.1386-2A>T
ENST00000650786.1:c.*1789-2A>T ENSP00000498280.1:n.*1789-2A>T
ENST00000650790.1:c.1644-2A>T ENSP00000498995.1:n.1644-2A>T
ENST00000650997.1:c.1644-2A>T ENSP00000498341.1:n.1644-2A>T
ENST00000651014.1:c.1488-2A>T ENSP00000498885.1:n.1488-2A>T
ENST00000651262.1:c.1643+93A>T ENSP00000498461.1:n.1643+93A>T
ENST00000651878.1:c.*1128-2A>T ENSP00000499077.1:n.*1128-2A>T
ENST00000652537.1:c.1644-2A>T ENSP00000499102.1:n.1644-2A>T
ENST00000652657.1:c.1644-2A>T ENSP00000498887.1:n.1644-2A>T
ENST00000676521.1:c.123-7A>T ENSP00000503000.1:n.123-7A>T
ENST00000676587.1:c.79+5578A>T
ENST00000676654.1:n.1773-2A>T
ENST00000676684.1:n.1773-2A>T
ENST00000676809.1:c.*333-2A>T ENSP00000504298.1:n.*333-2A>T
ENST00000676912.1:c.1488-2A>T ENSP00000503567.1:n.1488-2A>T
ENST00000676930.1:c.1296-2A>T ENSP00000502899.1:n.1296-2A>T
ENST00000677435.1:c.225-2A>T
ENST00000677499.1:c.1644-2A>T ENSP00000502875.1:n.1644-2A>T
ENST00000677632.1:c.1629-2A>T ENSP00000504586.1:n.1629-2A>T
ENST00000677641.1:c.1644-2A>T ENSP00000504637.1:n.1644-2A>T
ENST00000677686.1:n.4120A>T
ENST00000677831.1:c.1542-2A>T ENSP00000503760.1:n.1542-2A>T
ENST00000678180.1:c.1542-2A>T ENSP00000504132.1:n.1542-2A>T
ENST00000678197.1:n.1627-2A>T
ENST00000678567.1:c.194-2A>T
ENST00000678996.1:c.127-7A>T ENSP00000503169.1:n.127-7A>T
XM_005268809.1:c.1644-2A>T XP_005268866.1:n.1644-2A>T
XM_005268810.1:c.1644-2A>T XP_005268867.1:n.1644-2A>T
XR_001748674.2:n.1758-2A>T
XR_944524.1:n.1803-2A>T
XR_944525.1:n.1803-2A>T