Canonical Allele Identifier: CA344945943
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438910T>C , CM000663.2:g.235438910T>C GRCh38
NC_000001.10:g.235602225T>C , CM000663.1:g.235602225T>C GRCh37
NC_000001.9:g.233668848T>C NCBI36
NG_009230.1:g.76498T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1069T>C ENSP00000355560.4:p.Phe357Leu
ENST00000406207.5:c.1258T>C ENSP00000384571.1:p.Phe420Leu
ENST00000472011.6:n.1982T>C
ENST00000543662.4:c.1411T>C ENSP00000439170.1:p.Phe471Leu
ENST00000642339.1:c.*955T>C ENSP00000495425.1:n.*955T>C
ENST00000642431.1:c.1835T>C
ENST00000642463.1:c.*1156T>C ENSP00000495007.1:n.*1156T>C
ENST00000642503.1:c.*1032T>C ENSP00000494334.1:n.*1032T>C
ENST00000642610.2:c.1258T>C MANE Select ENSP00000494796.1:p.Phe420Leu
ENST00000642764.1:n.2089T>C
ENST00000643125.1:c.*273T>C ENSP00000494102.1:n.*273T>C
ENST00000643142.1:c.*749T>C ENSP00000494755.1:n.*749T>C
ENST00000643238.1:c.*278T>C ENSP00000495916.1:n.*278T>C
ENST00000643410.1:c.*548T>C ENSP00000495030.1:n.*548T>C
ENST00000643487.1:n.1945T>C
ENST00000643524.1:c.*843T>C ENSP00000494026.1:n.*843T>C
ENST00000643615.1:c.*1116+1436T>C ENSP00000496103.1:n.*1116+1436T>C
ENST00000643993.1:n.1394T>C
ENST00000643994.1:c.*1258T>C ENSP00000496322.1:n.*1258T>C
ENST00000644037.1:c.*1468T>C ENSP00000496408.1:n.*1468T>C
ENST00000644055.1:c.*1883T>C ENSP00000496307.1:n.*1883T>C
ENST00000644126.1:n.2930T>C
ENST00000644217.1:c.1258T>C ENSP00000494646.1:p.Phe420Leu
ENST00000644265.1:c.627T>C
ENST00000644578.1:c.1072T>C ENSP00000495953.1:p.Phe358Leu
ENST00000644604.1:c.1258T>C ENSP00000495961.1:p.Phe420Leu
ENST00000644680.1:c.*1779T>C ENSP00000496173.1:n.*1779T>C
ENST00000644838.1:c.*641T>C ENSP00000495910.1:n.*641T>C
ENST00000644910.1:c.1865T>C
ENST00000645205.1:c.1258T>C ENSP00000495823.1:p.Phe420Leu
ENST00000645351.1:c.1258T>C ENSP00000494319.1:p.Phe420Leu
ENST00000645551.1:c.*975T>C ENSP00000495928.1:n.*975T>C
ENST00000645578.1:c.*1032T>C ENSP00000496495.1:n.*1032T>C
ENST00000645582.1:c.*1088T>C ENSP00000494980.1:n.*1088T>C
ENST00000645655.1:c.1258T>C ENSP00000495202.1:p.Phe420Leu
ENST00000645836.1:c.*1032T>C ENSP00000493915.1:n.*1032T>C
ENST00000645899.1:c.1258T>C ENSP00000496773.1:p.Phe420Leu
ENST00000645964.1:c.*1124T>C ENSP00000494208.1:n.*1124T>C
ENST00000646104.1:c.*1726T>C ENSP00000495475.1:n.*1726T>C
ENST00000646186.1:c.*930T>C ENSP00000493806.1:n.*930T>C
ENST00000646286.1:c.*1151T>C ENSP00000494291.1:n.*1151T>C
ENST00000646463.1:c.*1023T>C ENSP00000494541.1:n.*1023T>C
ENST00000646528.1:c.*1974T>C ENSP00000496553.1:n.*1974T>C
ENST00000646536.1:c.*548T>C ENSP00000494801.1:n.*548T>C
ENST00000646624.1:c.1258T>C ENSP00000494575.1:p.Phe420Leu
ENST00000646821.1:c.*548T>C ENSP00000495257.1:n.*548T>C
ENST00000646842.1:n.702T>C
ENST00000646848.1:c.*473T>C ENSP00000495831.1:n.*473T>C
ENST00000647186.1:c.1258T>C ENSP00000494775.1:p.Phe420Leu
ENST00000647233.1:n.2238T>C
ENST00000647322.1:c.849T>C
ENST00000647418.1:c.*1032T>C ENSP00000493552.1:n.*1032T>C
ENST00000647428.1:c.919T>C ENSP00000495630.1:p.Phe307Leu
ENST00000651186.1:c.919T>C ENSP00000498645.1:p.Phe307Leu
ENST00000366601.7:c.1258T>C ENSP00000355560.3:p.Phe420Leu
ENST00000406207.4:c.1258T>C ENSP00000384571.1:p.Phe420Leu
ENST00000472011.5:n.1310T>C
ENST00000543662.3:c.1411T>C ENSP00000439170.1:p.Phe471Leu
NM_001079515.2:c.1258T>C NP_001072983.1:p.Phe420Leu
NM_001287801.1:c.1411T>C NP_001274730.1:p.Phe471Leu
NM_001287802.1:c.919T>C NP_001274731.1:p.Phe307Leu
NM_003193.4:c.1258T>C NP_003184.1:p.Phe420Leu
NM_003193.5:c.1258T>C MANE Select NP_003184.1:p.Phe420Leu
NM_001079515.3:c.1258T>C NP_001072983.1:p.Phe420Leu
NM_001287801.2:c.1411T>C NP_001274730.1:p.Phe471Leu
NM_001287802.2:c.919T>C NP_001274731.1:p.Phe307Leu