Canonical Allele Identifier: CA344944987
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438819T>A , CM000663.2:g.235438819T>A GRCh38
NC_000001.10:g.235602134T>A , CM000663.1:g.235602134T>A GRCh37
NC_000001.9:g.233668757T>A NCBI36
NG_009230.1:g.76407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.978T>A ENSP00000355560.4:p.Phe326Leu
ENST00000406207.5:c.1167T>A ENSP00000384571.1:p.Phe389Leu
ENST00000472011.6:n.1891T>A
ENST00000543662.4:c.1320T>A ENSP00000439170.1:p.Phe440Leu
ENST00000642339.1:c.*864T>A ENSP00000495425.1:n.*864T>A
ENST00000642431.1:c.1744T>A
ENST00000642463.1:c.*1065T>A ENSP00000495007.1:n.*1065T>A
ENST00000642503.1:c.*941T>A ENSP00000494334.1:n.*941T>A
ENST00000642610.2:c.1167T>A MANE Select ENSP00000494796.1:p.Phe389Leu
ENST00000642764.1:n.1998T>A
ENST00000643125.1:c.*182T>A ENSP00000494102.1:n.*182T>A
ENST00000643142.1:c.*658T>A ENSP00000494755.1:n.*658T>A
ENST00000643238.1:c.*187T>A ENSP00000495916.1:n.*187T>A
ENST00000643410.1:c.*457T>A ENSP00000495030.1:n.*457T>A
ENST00000643487.1:n.1854T>A
ENST00000643524.1:c.*752T>A ENSP00000494026.1:n.*752T>A
ENST00000643615.1:c.*1116+1345T>A ENSP00000496103.1:n.*1116+1345T>A
ENST00000643993.1:n.1303T>A
ENST00000643994.1:c.*1167T>A ENSP00000496322.1:n.*1167T>A
ENST00000644037.1:c.*1377T>A ENSP00000496408.1:n.*1377T>A
ENST00000644055.1:c.*1792T>A ENSP00000496307.1:n.*1792T>A
ENST00000644126.1:n.2839T>A
ENST00000644217.1:c.1167T>A ENSP00000494646.1:p.Phe389Leu
ENST00000644265.1:c.536T>A
ENST00000644578.1:c.981T>A ENSP00000495953.1:p.Phe327Leu
ENST00000644604.1:c.1167T>A ENSP00000495961.1:p.Phe389Leu
ENST00000644680.1:c.*1688T>A ENSP00000496173.1:n.*1688T>A
ENST00000644838.1:c.*550T>A ENSP00000495910.1:n.*550T>A
ENST00000644910.1:c.1774T>A
ENST00000645205.1:c.1167T>A ENSP00000495823.1:p.Phe389Leu
ENST00000645351.1:c.1167T>A ENSP00000494319.1:p.Phe389Leu
ENST00000645551.1:c.*884T>A ENSP00000495928.1:n.*884T>A
ENST00000645578.1:c.*941T>A ENSP00000496495.1:n.*941T>A
ENST00000645582.1:c.*997T>A ENSP00000494980.1:n.*997T>A
ENST00000645655.1:c.1167T>A ENSP00000495202.1:p.Phe389Leu
ENST00000645662.1:c.*626T>A ENSP00000495964.1:n.*626T>A
ENST00000645836.1:c.*941T>A ENSP00000493915.1:n.*941T>A
ENST00000645899.1:c.1167T>A ENSP00000496773.1:p.Phe389Leu
ENST00000645964.1:c.*1033T>A ENSP00000494208.1:n.*1033T>A
ENST00000646104.1:c.*1635T>A ENSP00000495475.1:n.*1635T>A
ENST00000646186.1:c.*839T>A ENSP00000493806.1:n.*839T>A
ENST00000646286.1:c.*1060T>A ENSP00000494291.1:n.*1060T>A
ENST00000646463.1:c.*932T>A ENSP00000494541.1:n.*932T>A
ENST00000646528.1:c.*1883T>A ENSP00000496553.1:n.*1883T>A
ENST00000646536.1:c.*457T>A ENSP00000494801.1:n.*457T>A
ENST00000646624.1:c.1167T>A ENSP00000494575.1:p.Phe389Leu
ENST00000646821.1:c.*457T>A ENSP00000495257.1:n.*457T>A
ENST00000646842.1:n.611T>A
ENST00000646848.1:c.*382T>A ENSP00000495831.1:n.*382T>A
ENST00000647186.1:c.1167T>A ENSP00000494775.1:p.Phe389Leu
ENST00000647233.1:n.2147T>A
ENST00000647322.1:c.758T>A
ENST00000647418.1:c.*941T>A ENSP00000493552.1:n.*941T>A
ENST00000647428.1:c.828T>A ENSP00000495630.1:p.Phe276Leu
ENST00000651186.1:c.828T>A ENSP00000498645.1:p.Phe276Leu
ENST00000366601.7:c.1167T>A ENSP00000355560.3:p.Phe389Leu
ENST00000406207.4:c.1167T>A ENSP00000384571.1:p.Phe389Leu
ENST00000472011.5:n.1219T>A
ENST00000543662.3:c.1320T>A ENSP00000439170.1:p.Phe440Leu
NM_001079515.2:c.1167T>A NP_001072983.1:p.Phe389Leu
NM_001287801.1:c.1320T>A NP_001274730.1:p.Phe440Leu
NM_001287802.1:c.828T>A NP_001274731.1:p.Phe276Leu
NM_003193.4:c.1167T>A NP_003184.1:p.Phe389Leu
NM_003193.5:c.1167T>A MANE Select NP_003184.1:p.Phe389Leu
NM_001079515.3:c.1167T>A NP_001072983.1:p.Phe389Leu
NM_001287801.2:c.1320T>A NP_001274730.1:p.Phe440Leu
NM_001287802.2:c.828T>A NP_001274731.1:p.Phe276Leu