Canonical Allele Identifier: CA385596028
Community Standard Title: NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64466969C>T , CM000674.2:g.64466969C>T GRCh38
NC_000012.11:g.64860749C>T , CM000674.1:g.64860749C>T GRCh37
NC_000012.10:g.63147016C>T NCBI36
NG_046906.1:g.19910C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.427C>T MANE Select NP_037386.1:p.Arg143Cys
ENST00000331710.10:c.427C>T MANE Select ENSP00000329967.5:p.Arg143Cys
NM_013254.3:c.427C>T NP_037386.1:p.Arg143Cys
ENST00000331710.9:c.427C>T ENSP00000329967.5:p.Arg143Cys
ENST00000650708.1:c.303C>T
ENST00000650762.1:c.271C>T ENSP00000498758.1:p.Arg91Cys
ENST00000650786.1:c.*572C>T ENSP00000498280.1:n.*572C>T
ENST00000650790.1:c.427C>T ENSP00000498995.1:p.Arg143Cys
ENST00000650997.1:c.427C>T ENSP00000498341.1:p.Arg143Cys
ENST00000651014.1:c.271C>T ENSP00000498885.1:p.Arg91Cys
ENST00000651262.1:c.427C>T ENSP00000498461.1:p.Arg143Cys
ENST00000651878.1:c.427C>T ENSP00000499077.1:p.Arg143Cys
ENST00000651889.1:n.178C>T
ENST00000651947.1:n.515C>T
ENST00000652389.1:c.427C>T ENSP00000498414.1:p.Arg143Cys
ENST00000652537.1:c.427C>T ENSP00000499102.1:p.Arg143Cys
ENST00000652657.1:c.427C>T ENSP00000498887.1:p.Arg143Cys
ENST00000676551.1:n.526C>T
ENST00000676654.1:n.556C>T
ENST00000676684.1:n.556C>T
ENST00000676809.1:c.427C>T ENSP00000504298.1:p.Arg143Cys
ENST00000676912.1:c.271C>T ENSP00000503567.1:p.Arg91Cys
ENST00000676930.1:c.427C>T ENSP00000502899.1:p.Arg143Cys
ENST00000677016.1:c.69C>T
ENST00000677112.1:c.69C>T
ENST00000677499.1:c.427C>T ENSP00000502875.1:p.Arg143Cys
ENST00000677549.1:n.489C>T
ENST00000677632.1:c.427C>T ENSP00000504586.1:p.Arg143Cys
ENST00000677641.1:c.427C>T ENSP00000504637.1:p.Arg143Cys
ENST00000677686.1:n.530C>T
ENST00000677759.1:c.284C>T ENSP00000503847.1:n.284C>T
ENST00000677831.1:c.427C>T ENSP00000503760.1:p.Arg143Cys
ENST00000677973.1:c.69C>T
ENST00000678079.1:c.131-10C>T ENSP00000503613.1:n.131-10C>T
ENST00000678180.1:c.427C>T ENSP00000504132.1:p.Arg143Cys
ENST00000678197.1:n.411C>T
ENST00000678738.1:c.69C>T
ENST00000678808.1:c.69C>T
ENST00000679050.1:c.389C>T ENSP00000503595.1:n.389C>T
ENST00000679302.1:c.195C>T ENSP00000503553.1:n.195C>T
XM_005268809.1:c.427C>T XP_005268866.1:p.Arg143Cys
XM_005268810.1:c.427C>T XP_005268867.1:p.Arg143Cys
XR_001748674.2:n.541C>T
XR_944524.1:n.586C>T
XR_944525.1:n.586C>T