Canonical Allele Identifier: CA6668769
Community Standard Title: NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64464454C>T , CM000674.2:g.64464454C>T GRCh38
NC_000012.11:g.64858234C>T , CM000674.1:g.64858234C>T GRCh37
NC_000012.10:g.63144501C>T NCBI36
NG_046906.1:g.17395C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.349C>T MANE Select NP_037386.1:p.Arg117Ter
ENST00000331710.10:c.349C>T MANE Select ENSP00000329967.5:p.Arg117Ter
NM_013254.3:c.349C>T NP_037386.1:p.Arg117Ter
ENST00000331710.9:c.349C>T ENSP00000329967.5:p.Arg117Ter
ENST00000650708.1:c.225C>T
ENST00000650762.1:c.193C>T ENSP00000498758.1:p.Arg65Ter
ENST00000650786.1:c.*494C>T ENSP00000498280.1:n.*494C>T
ENST00000650790.1:c.349C>T ENSP00000498995.1:p.Arg117Ter
ENST00000650997.1:c.349C>T ENSP00000498341.1:p.Arg117Ter
ENST00000651014.1:c.193C>T ENSP00000498885.1:p.Arg65Ter
ENST00000651262.1:c.349C>T ENSP00000498461.1:p.Arg117Ter
ENST00000651878.1:c.349C>T ENSP00000499077.1:p.Arg117Ter
ENST00000651889.1:n.100C>T
ENST00000651947.1:n.437C>T
ENST00000652389.1:c.349C>T ENSP00000498414.1:p.Arg117Ter
ENST00000652537.1:c.349C>T ENSP00000499102.1:p.Arg117Ter
ENST00000652657.1:c.349C>T ENSP00000498887.1:p.Arg117Ter
ENST00000676469.1:c.208C>T ENSP00000503155.1:p.Arg70Ter
ENST00000676551.1:n.448C>T
ENST00000676654.1:n.478C>T
ENST00000676684.1:n.478C>T
ENST00000676809.1:c.349C>T ENSP00000504298.1:p.Arg117Ter
ENST00000676901.1:n.223C>T
ENST00000676912.1:c.193C>T ENSP00000503567.1:p.Arg65Ter
ENST00000676930.1:c.349C>T ENSP00000502899.1:p.Arg117Ter
ENST00000677499.1:c.349C>T ENSP00000502875.1:p.Arg117Ter
ENST00000677549.1:n.411C>T
ENST00000677632.1:c.349C>T ENSP00000504586.1:p.Arg117Ter
ENST00000677641.1:c.349C>T ENSP00000504637.1:p.Arg117Ter
ENST00000677686.1:n.452C>T
ENST00000677759.1:c.121C>T ENSP00000503847.1:p.Arg41Ter
ENST00000677831.1:c.349C>T ENSP00000503760.1:p.Arg117Ter
ENST00000678079.1:c.121C>T ENSP00000503613.1:p.Arg41Ter
ENST00000678180.1:c.349C>T ENSP00000504132.1:p.Arg117Ter
ENST00000678197.1:n.333C>T
ENST00000678430.1:n.448C>T
ENST00000679050.1:c.311C>T ENSP00000503595.1:n.311C>T
ENST00000679302.1:c.121C>T ENSP00000503553.1:p.Arg41Ter
XM_005268809.1:c.349C>T XP_005268866.1:p.Arg117Ter
XM_005268810.1:c.349C>T XP_005268867.1:p.Arg117Ter
XR_001748674.2:n.463C>T
XR_944524.1:n.508C>T
XR_944525.1:n.508C>T