Canonical Allele Identifier: CA6669278
Community Standard Title: NM_013254.4(TBK1):c.2139-7G>A
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64501323G>A , CM000674.2:g.64501323G>A GRCh38
NC_000012.11:g.64895103G>A , CM000674.1:g.64895103G>A GRCh37
NC_000012.10:g.63181370G>A NCBI36
NG_046906.1:g.54264G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.2139-7G>A MANE Select NP_037386.1:n.2139-7G>A
ENST00000331710.10:c.2139-7G>A MANE Select ENSP00000329967.5:n.2139-7G>A
NM_013254.3:c.2139-7G>A NP_037386.1:n.2139-7G>A
ENST00000331710.9:c.2139-7G>A ENSP00000329967.5:n.2139-7G>A
ENST00000545392.2:n.1045-7G>A
ENST00000650708.1:c.2176-7G>A
ENST00000650762.1:c.1881-7G>A ENSP00000498758.1:n.1881-7G>A
ENST00000650786.1:c.*2284-7G>A ENSP00000498280.1:n.*2284-7G>A
ENST00000650790.1:c.2139-7G>A ENSP00000498995.1:n.2139-7G>A
ENST00000650997.1:c.*157-7G>A ENSP00000498341.1:n.*157-7G>A
ENST00000651014.1:c.1983-7G>A ENSP00000498885.1:n.1983-7G>A
ENST00000651262.1:c.*406-7G>A ENSP00000498461.1:n.*406-7G>A
ENST00000651878.1:c.*1623-7G>A ENSP00000499077.1:n.*1623-7G>A
ENST00000652537.1:c.*519-7G>A ENSP00000499102.1:n.*519-7G>A
ENST00000652657.1:c.2067-7G>A ENSP00000498887.1:n.2067-7G>A
ENST00000676587.1:c.80-7G>A
ENST00000676593.1:c.151-7G>A
ENST00000676654.1:n.2481-7G>A
ENST00000676684.1:n.2859-7G>A
ENST00000676809.1:c.*828-7G>A ENSP00000504298.1:n.*828-7G>A
ENST00000676912.1:c.1983-7G>A ENSP00000503567.1:n.1983-7G>A
ENST00000676930.1:c.1791-7G>A ENSP00000502899.1:n.1791-7G>A
ENST00000677313.1:c.282-7G>A
ENST00000677499.1:c.*515-7G>A ENSP00000502875.1:n.*515-7G>A
ENST00000677632.1:c.2124-7G>A ENSP00000504586.1:n.2124-7G>A
ENST00000677641.1:c.2136-7G>A ENSP00000504637.1:n.2136-7G>A
ENST00000677686.1:n.5208-7G>A
ENST00000677831.1:c.*519-7G>A ENSP00000503760.1:n.*519-7G>A
ENST00000678180.1:c.2037-7G>A ENSP00000504132.1:n.2037-7G>A
ENST00000678197.1:n.2122-7G>A
ENST00000678992.1:n.31-7G>A
XM_005268809.1:c.2139-7G>A XP_005268866.1:n.2139-7G>A
XM_005268810.1:c.2139-7G>A XP_005268867.1:n.2139-7G>A
XR_001748674.2:n.2361-7G>A