Canonical Allele Identifier: CA385592740
Community Standard Title: NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64455875A>G , CM000674.2:g.64455875A>G GRCh38
NC_000012.11:g.64849655A>G , CM000674.1:g.64849655A>G GRCh37
NC_000012.10:g.63135922A>G NCBI36
NG_046906.1:g.8816A>G

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.5A>G MANE Select NP_037386.1:p.Gln2Arg
ENST00000331710.10:c.5A>G MANE Select ENSP00000329967.5:p.Gln2Arg
NM_013254.3:c.5A>G NP_037386.1:p.Gln2Arg
ENST00000331710.9:c.5A>G ENSP00000329967.5:p.Gln2Arg
ENST00000538890.5:c.5A>G ENSP00000445834.1:p.Gln2Arg
ENST00000539810.1:c.-110-42A>G ENSP00000444428.1:n.-110-42A>G
ENST00000540417.1:c.5A>G ENSP00000445628.1:p.Gln2Arg
ENST00000650762.1:c.-110-42A>G ENSP00000498758.1:n.-110-42A>G
ENST00000650786.1:c.5A>G ENSP00000498280.1:p.Gln2Arg
ENST00000650790.1:c.5A>G ENSP00000498995.1:p.Gln2Arg
ENST00000650997.1:c.5A>G ENSP00000498341.1:p.Gln2Arg
ENST00000651014.1:c.-263A>G ENSP00000498885.1:n.-263A>G
ENST00000651262.1:c.5A>G ENSP00000498461.1:p.Gln2Arg
ENST00000651878.1:c.5A>G ENSP00000499077.1:p.Gln2Arg
ENST00000651947.1:n.93A>G
ENST00000652389.1:c.5A>G ENSP00000498414.1:p.Gln2Arg
ENST00000652537.1:c.5A>G ENSP00000499102.1:p.Gln2Arg
ENST00000652657.1:c.5A>G ENSP00000498887.1:p.Gln2Arg
ENST00000676469.1:c.5A>G ENSP00000503155.1:p.Gln2Arg
ENST00000676551.1:n.104A>G
ENST00000676654.1:n.134A>G
ENST00000676684.1:n.134A>G
ENST00000676809.1:c.5A>G ENSP00000504298.1:p.Gln2Arg
ENST00000676912.1:c.-94A>G ENSP00000503567.1:n.-94A>G
ENST00000676930.1:c.5A>G ENSP00000502899.1:p.Gln2Arg
ENST00000677499.1:c.5A>G ENSP00000502875.1:p.Gln2Arg
ENST00000677545.1:c.-70+3688A>G ENSP00000504729.1:n.-70+3688A>G
ENST00000677549.1:n.67A>G
ENST00000677632.1:c.5A>G ENSP00000504586.1:p.Gln2Arg
ENST00000677641.1:c.5A>G ENSP00000504637.1:p.Gln2Arg
ENST00000677686.1:n.108A>G
ENST00000677831.1:c.5A>G ENSP00000503760.1:p.Gln2Arg
ENST00000678180.1:c.5A>G ENSP00000504132.1:p.Gln2Arg
ENST00000678368.1:c.5A>G ENSP00000504296.1:p.Gln2Arg
ENST00000678430.1:n.104A>G
ENST00000679065.1:n.95A>G
XM_005268809.1:c.5A>G XP_005268866.1:p.Gln2Arg
XM_005268810.1:c.5A>G XP_005268867.1:p.Gln2Arg
XR_001748674.2:n.119A>G
XR_944524.1:n.164A>G
XR_944525.1:n.164A>G