Canonical Allele Identifier: CA385602681
Community Standard Title: NM_013254.4(TBK1):c.1443-1G>T
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64490040G>T , CM000674.2:g.64490040G>T GRCh38
NC_000012.11:g.64883820G>T , CM000674.1:g.64883820G>T GRCh37
NC_000012.10:g.63170087G>T NCBI36
NG_046906.1:g.42981G>T

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1443-1G>T MANE Select NP_037386.1:n.1443-1G>T
ENST00000331710.10:c.1443-1G>T MANE Select ENSP00000329967.5:n.1443-1G>T
NM_013254.3:c.1443-1G>T NP_037386.1:n.1443-1G>T
ENST00000331710.9:c.1443-1G>T ENSP00000329967.5:n.1443-1G>T
ENST00000650708.1:c.1319-1G>T
ENST00000650762.1:c.1185-1G>T ENSP00000498758.1:n.1185-1G>T
ENST00000650786.1:c.*1588-1G>T ENSP00000498280.1:n.*1588-1G>T
ENST00000650790.1:c.1443-1G>T ENSP00000498995.1:n.1443-1G>T
ENST00000650997.1:c.1443-1G>T ENSP00000498341.1:n.1443-1G>T
ENST00000651014.1:c.1287-1G>T ENSP00000498885.1:n.1287-1G>T
ENST00000651262.1:c.1443-1G>T ENSP00000498461.1:n.1443-1G>T
ENST00000651878.1:c.*927-1G>T ENSP00000499077.1:n.*927-1G>T
ENST00000651889.1:n.1162-1G>T
ENST00000651947.1:n.1531-1G>T
ENST00000652389.1:c.1443-1G>T ENSP00000498414.1:n.1443-1G>T
ENST00000652537.1:c.1443-1G>T ENSP00000499102.1:n.1443-1G>T
ENST00000652657.1:c.1443-1G>T ENSP00000498887.1:n.1443-1G>T
ENST00000676490.1:c.360-1G>T
ENST00000676539.1:c.222-1G>T
ENST00000676551.1:n.1542-1G>T
ENST00000676654.1:n.1572-1G>T
ENST00000676684.1:n.1572-1G>T
ENST00000676774.1:n.298-1G>T
ENST00000676809.1:c.1443-1G>T ENSP00000504298.1:n.1443-1G>T
ENST00000676912.1:c.1287-1G>T ENSP00000503567.1:n.1287-1G>T
ENST00000676930.1:c.1095-1G>T ENSP00000502899.1:n.1095-1G>T
ENST00000677435.1:c.102+1452G>T
ENST00000677499.1:c.1443-1G>T ENSP00000502875.1:n.1443-1G>T
ENST00000677632.1:c.1443-1G>T ENSP00000504586.1:n.1443-1G>T
ENST00000677641.1:c.1443-1G>T ENSP00000504637.1:n.1443-1G>T
ENST00000677686.1:n.3827-1G>T
ENST00000677831.1:c.1341-1G>T ENSP00000503760.1:n.1341-1G>T
ENST00000678180.1:c.1341-1G>T ENSP00000504132.1:n.1341-1G>T
ENST00000678197.1:n.1426-1G>T
ENST00000679010.1:n.625-1G>T
XM_005268809.1:c.1443-1G>T XP_005268866.1:n.1443-1G>T
XM_005268810.1:c.1443-1G>T XP_005268867.1:n.1443-1G>T
XR_001748674.2:n.1557-1G>T
XR_944524.1:n.1602-1G>T
XR_944525.1:n.1602-1G>T