Canonical Allele Identifier: CA385605880
Community Standard Title: NM_013254.4(TBK1):c.1863-1G>A
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64497162G>A , CM000674.2:g.64497162G>A GRCh38
NC_000012.11:g.64890942G>A , CM000674.1:g.64890942G>A GRCh37
NC_000012.10:g.63177209G>A NCBI36
NG_046906.1:g.50103G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1863-1G>A MANE Select NP_037386.1:n.1863-1G>A
ENST00000331710.10:c.1863-1G>A MANE Select ENSP00000329967.5:n.1863-1G>A
NM_013254.3:c.1863-1G>A NP_037386.1:n.1863-1G>A
ENST00000331710.9:c.1863-1G>A ENSP00000329967.5:n.1863-1G>A
ENST00000545392.1:n.38-1G>A
ENST00000545392.2:n.769-1G>A
ENST00000650708.1:c.1904-5G>A
ENST00000650762.1:c.1605-1G>A ENSP00000498758.1:n.1605-1G>A
ENST00000650786.1:c.*2008-1G>A ENSP00000498280.1:n.*2008-1G>A
ENST00000650790.1:c.1863-1G>A ENSP00000498995.1:n.1863-1G>A
ENST00000650997.1:c.1863-1G>A ENSP00000498341.1:n.1863-1G>A
ENST00000651014.1:c.1707-1G>A ENSP00000498885.1:n.1707-1G>A
ENST00000651262.1:c.*130-1G>A ENSP00000498461.1:n.*130-1G>A
ENST00000651878.1:c.*1347-1G>A ENSP00000499077.1:n.*1347-1G>A
ENST00000652537.1:c.*243-1G>A ENSP00000499102.1:n.*243-1G>A
ENST00000652657.1:c.1863-1G>A ENSP00000498887.1:n.1863-1G>A
ENST00000676521.1:c.337-1G>A ENSP00000503000.1:n.337-1G>A
ENST00000676587.1:c.80-4168G>A
ENST00000676654.1:n.1992-1G>A
ENST00000676684.1:n.2583-1G>A
ENST00000676809.1:c.*552-1G>A ENSP00000504298.1:n.*552-1G>A
ENST00000676912.1:c.1707-1G>A ENSP00000503567.1:n.1707-1G>A
ENST00000676930.1:c.1515-1G>A ENSP00000502899.1:n.1515-1G>A
ENST00000677499.1:c.*243-5G>A ENSP00000502875.1:n.*243-5G>A
ENST00000677632.1:c.1848-1G>A ENSP00000504586.1:n.1848-1G>A
ENST00000677641.1:c.1860-1G>A ENSP00000504637.1:n.1860-1G>A
ENST00000677686.1:n.4932-1G>A
ENST00000677831.1:c.*243-1G>A ENSP00000503760.1:n.*243-1G>A
ENST00000678180.1:c.1761-1G>A ENSP00000504132.1:n.1761-1G>A
ENST00000678197.1:n.1846-1G>A
ENST00000678567.1:c.413-1G>A
XM_005268809.1:c.1863-1G>A XP_005268866.1:n.1863-1G>A
XM_005268810.1:c.1863-1G>A XP_005268867.1:n.1863-1G>A
XR_001748674.2:n.2085-1G>A