Canonical Allele Identifier: CA385605753
Community Standard Title: NM_013254.4(TBK1):c.1852G>A (p.Glu618Lys)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64497040G>A , CM000674.2:g.64497040G>A GRCh38
NC_000012.11:g.64890820G>A , CM000674.1:g.64890820G>A GRCh37
NC_000012.10:g.63177087G>A NCBI36
NG_046906.1:g.49981G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1852G>A MANE Select NP_037386.1:p.Glu618Lys
ENST00000331710.10:c.1852G>A MANE Select ENSP00000329967.5:p.Glu618Lys
NM_013254.3:c.1852G>A NP_037386.1:p.Glu618Lys
ENST00000331710.9:c.1852G>A ENSP00000329967.5:p.Glu618Lys
ENST00000545392.1:n.27G>A
ENST00000545392.2:n.758G>A
ENST00000650708.1:c.1893G>A
ENST00000650762.1:c.1594G>A ENSP00000498758.1:p.Glu532Lys
ENST00000650786.1:c.*1997G>A ENSP00000498280.1:n.*1997G>A
ENST00000650790.1:c.1852G>A ENSP00000498995.1:p.Glu618Lys
ENST00000650997.1:c.1852G>A ENSP00000498341.1:p.Glu618Lys
ENST00000651014.1:c.1696G>A ENSP00000498885.1:p.Glu566Lys
ENST00000651262.1:c.*119G>A ENSP00000498461.1:n.*119G>A
ENST00000651878.1:c.*1336G>A ENSP00000499077.1:n.*1336G>A
ENST00000652537.1:c.*232G>A ENSP00000499102.1:n.*232G>A
ENST00000652657.1:c.1852G>A ENSP00000498887.1:p.Glu618Lys
ENST00000676521.1:c.326G>A ENSP00000503000.1:n.326G>A
ENST00000676587.1:c.80-4290G>A
ENST00000676654.1:n.1981G>A
ENST00000676684.1:n.2572G>A
ENST00000676809.1:c.*541G>A ENSP00000504298.1:n.*541G>A
ENST00000676912.1:c.1696G>A ENSP00000503567.1:p.Glu566Lys
ENST00000676930.1:c.1504G>A ENSP00000502899.1:p.Glu502Lys
ENST00000677499.1:c.*232G>A ENSP00000502875.1:n.*232G>A
ENST00000677632.1:c.1837G>A ENSP00000504586.1:p.Glu613Lys
ENST00000677641.1:c.1849G>A ENSP00000504637.1:p.Glu617Lys
ENST00000677686.1:n.4921G>A
ENST00000677831.1:c.*232G>A ENSP00000503760.1:n.*232G>A
ENST00000678180.1:c.1750G>A ENSP00000504132.1:p.Glu584Lys
ENST00000678197.1:n.1835G>A
ENST00000678567.1:c.402G>A
XM_005268809.1:c.1852G>A XP_005268866.1:p.Glu618Lys
XM_005268810.1:c.1852G>A XP_005268867.1:p.Glu618Lys
XR_001748674.2:n.2074G>A