Canonical Allele Identifier: CA344945111
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438833A>G , CM000663.2:g.235438833A>G GRCh38
NC_000001.10:g.235602148A>G , CM000663.1:g.235602148A>G GRCh37
NC_000001.9:g.233668771A>G NCBI36
NG_009230.1:g.76421A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.992A>G ENSP00000355560.4:p.Lys331Arg
ENST00000406207.5:c.1181A>G ENSP00000384571.1:p.Lys394Arg
ENST00000472011.6:n.1905A>G
ENST00000543662.4:c.1334A>G ENSP00000439170.1:p.Lys445Arg
ENST00000642339.1:c.*878A>G ENSP00000495425.1:n.*878A>G
ENST00000642431.1:c.1758A>G
ENST00000642463.1:c.*1079A>G ENSP00000495007.1:n.*1079A>G
ENST00000642503.1:c.*955A>G ENSP00000494334.1:n.*955A>G
ENST00000642610.2:c.1181A>G MANE Select ENSP00000494796.1:p.Lys394Arg
ENST00000642764.1:n.2012A>G
ENST00000643125.1:c.*196A>G ENSP00000494102.1:n.*196A>G
ENST00000643142.1:c.*672A>G ENSP00000494755.1:n.*672A>G
ENST00000643238.1:c.*201A>G ENSP00000495916.1:n.*201A>G
ENST00000643410.1:c.*471A>G ENSP00000495030.1:n.*471A>G
ENST00000643487.1:n.1868A>G
ENST00000643524.1:c.*766A>G ENSP00000494026.1:n.*766A>G
ENST00000643615.1:c.*1116+1359A>G ENSP00000496103.1:n.*1116+1359A>G
ENST00000643993.1:n.1317A>G
ENST00000643994.1:c.*1181A>G ENSP00000496322.1:n.*1181A>G
ENST00000644037.1:c.*1391A>G ENSP00000496408.1:n.*1391A>G
ENST00000644055.1:c.*1806A>G ENSP00000496307.1:n.*1806A>G
ENST00000644126.1:n.2853A>G
ENST00000644217.1:c.1181A>G ENSP00000494646.1:p.Lys394Arg
ENST00000644265.1:c.550A>G
ENST00000644578.1:c.995A>G ENSP00000495953.1:p.Lys332Arg
ENST00000644604.1:c.1181A>G ENSP00000495961.1:p.Lys394Arg
ENST00000644680.1:c.*1702A>G ENSP00000496173.1:n.*1702A>G
ENST00000644838.1:c.*564A>G ENSP00000495910.1:n.*564A>G
ENST00000644910.1:c.1788A>G
ENST00000645205.1:c.1181A>G ENSP00000495823.1:p.Lys394Arg
ENST00000645351.1:c.1181A>G ENSP00000494319.1:p.Lys394Arg
ENST00000645551.1:c.*898A>G ENSP00000495928.1:n.*898A>G
ENST00000645578.1:c.*955A>G ENSP00000496495.1:n.*955A>G
ENST00000645582.1:c.*1011A>G ENSP00000494980.1:n.*1011A>G
ENST00000645655.1:c.1181A>G ENSP00000495202.1:p.Lys394Arg
ENST00000645662.1:c.*640A>G ENSP00000495964.1:n.*640A>G
ENST00000645836.1:c.*955A>G ENSP00000493915.1:n.*955A>G
ENST00000645899.1:c.1181A>G ENSP00000496773.1:p.Lys394Arg
ENST00000645964.1:c.*1047A>G ENSP00000494208.1:n.*1047A>G
ENST00000646104.1:c.*1649A>G ENSP00000495475.1:n.*1649A>G
ENST00000646186.1:c.*853A>G ENSP00000493806.1:n.*853A>G
ENST00000646286.1:c.*1074A>G ENSP00000494291.1:n.*1074A>G
ENST00000646463.1:c.*946A>G ENSP00000494541.1:n.*946A>G
ENST00000646528.1:c.*1897A>G ENSP00000496553.1:n.*1897A>G
ENST00000646536.1:c.*471A>G ENSP00000494801.1:n.*471A>G
ENST00000646624.1:c.1181A>G ENSP00000494575.1:p.Lys394Arg
ENST00000646821.1:c.*471A>G ENSP00000495257.1:n.*471A>G
ENST00000646842.1:n.625A>G
ENST00000646848.1:c.*396A>G ENSP00000495831.1:n.*396A>G
ENST00000647186.1:c.1181A>G ENSP00000494775.1:p.Lys394Arg
ENST00000647233.1:n.2161A>G
ENST00000647322.1:c.772A>G
ENST00000647418.1:c.*955A>G ENSP00000493552.1:n.*955A>G
ENST00000647428.1:c.842A>G ENSP00000495630.1:p.Lys281Arg
ENST00000651186.1:c.842A>G ENSP00000498645.1:p.Lys281Arg
ENST00000366601.7:c.1181A>G ENSP00000355560.3:p.Lys394Arg
ENST00000406207.4:c.1181A>G ENSP00000384571.1:p.Lys394Arg
ENST00000472011.5:n.1233A>G
ENST00000543662.3:c.1334A>G ENSP00000439170.1:p.Lys445Arg
NM_001079515.2:c.1181A>G NP_001072983.1:p.Lys394Arg
NM_001287801.1:c.1334A>G NP_001274730.1:p.Lys445Arg
NM_001287802.1:c.842A>G NP_001274731.1:p.Lys281Arg
NM_003193.4:c.1181A>G NP_003184.1:p.Lys394Arg
NM_003193.5:c.1181A>G MANE Select NP_003184.1:p.Lys394Arg
NM_001079515.3:c.1181A>G NP_001072983.1:p.Lys394Arg
NM_001287801.2:c.1334A>G NP_001274730.1:p.Lys445Arg
NM_001287802.2:c.842A>G NP_001274731.1:p.Lys281Arg