Canonical Allele Identifier: CA344944585
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438775C>A , CM000663.2:g.235438775C>A GRCh38
NC_000001.10:g.235602090C>A , CM000663.1:g.235602090C>A GRCh37
NC_000001.9:g.233668713C>A NCBI36
NG_009230.1:g.76363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.934C>A ENSP00000355560.4:p.Pro312Thr
ENST00000406207.5:c.1123C>A ENSP00000384571.1:p.Pro375Thr
ENST00000472011.6:n.1847C>A
ENST00000543662.4:c.1276C>A ENSP00000439170.1:p.Pro426Thr
ENST00000642339.1:c.*820C>A ENSP00000495425.1:n.*820C>A
ENST00000642431.1:c.1700C>A
ENST00000642463.1:c.*1021C>A ENSP00000495007.1:n.*1021C>A
ENST00000642503.1:c.*897C>A ENSP00000494334.1:n.*897C>A
ENST00000642610.2:c.1123C>A MANE Select ENSP00000494796.1:p.Pro375Thr
ENST00000642764.1:n.1954C>A
ENST00000643125.1:c.*138C>A ENSP00000494102.1:n.*138C>A
ENST00000643142.1:c.*614C>A ENSP00000494755.1:n.*614C>A
ENST00000643238.1:c.*143C>A ENSP00000495916.1:n.*143C>A
ENST00000643410.1:c.*413C>A ENSP00000495030.1:n.*413C>A
ENST00000643487.1:n.1810C>A
ENST00000643524.1:c.*708C>A ENSP00000494026.1:n.*708C>A
ENST00000643615.1:c.*1116+1301C>A ENSP00000496103.1:n.*1116+1301C>A
ENST00000643993.1:n.1259C>A
ENST00000643994.1:c.*1123C>A ENSP00000496322.1:n.*1123C>A
ENST00000644037.1:c.*1333C>A ENSP00000496408.1:n.*1333C>A
ENST00000644055.1:c.*1748C>A ENSP00000496307.1:n.*1748C>A
ENST00000644126.1:n.2795C>A
ENST00000644217.1:c.1123C>A ENSP00000494646.1:p.Pro375Thr
ENST00000644265.1:c.492C>A
ENST00000644578.1:c.937C>A ENSP00000495953.1:p.Pro313Thr
ENST00000644604.1:c.1123C>A ENSP00000495961.1:p.Pro375Thr
ENST00000644680.1:c.*1644C>A ENSP00000496173.1:n.*1644C>A
ENST00000644838.1:c.*506C>A ENSP00000495910.1:n.*506C>A
ENST00000644910.1:c.1730C>A
ENST00000645205.1:c.1123C>A ENSP00000495823.1:p.Pro375Thr
ENST00000645351.1:c.1123C>A ENSP00000494319.1:p.Pro375Thr
ENST00000645551.1:c.*840C>A ENSP00000495928.1:n.*840C>A
ENST00000645578.1:c.*897C>A ENSP00000496495.1:n.*897C>A
ENST00000645582.1:c.*953C>A ENSP00000494980.1:n.*953C>A
ENST00000645655.1:c.1123C>A ENSP00000495202.1:p.Pro375Thr
ENST00000645662.1:c.*582C>A ENSP00000495964.1:n.*582C>A
ENST00000645836.1:c.*897C>A ENSP00000493915.1:n.*897C>A
ENST00000645899.1:c.1123C>A ENSP00000496773.1:p.Pro375Thr
ENST00000645964.1:c.*989C>A ENSP00000494208.1:n.*989C>A
ENST00000646104.1:c.*1591C>A ENSP00000495475.1:n.*1591C>A
ENST00000646186.1:c.*795C>A ENSP00000493806.1:n.*795C>A
ENST00000646286.1:c.*1016C>A ENSP00000494291.1:n.*1016C>A
ENST00000646463.1:c.*888C>A ENSP00000494541.1:n.*888C>A
ENST00000646528.1:c.*1839C>A ENSP00000496553.1:n.*1839C>A
ENST00000646536.1:c.*413C>A ENSP00000494801.1:n.*413C>A
ENST00000646624.1:c.1123C>A ENSP00000494575.1:p.Pro375Thr
ENST00000646821.1:c.*413C>A ENSP00000495257.1:n.*413C>A
ENST00000646842.1:n.567C>A
ENST00000646848.1:c.*338C>A ENSP00000495831.1:n.*338C>A
ENST00000647186.1:c.1123C>A ENSP00000494775.1:p.Pro375Thr
ENST00000647233.1:n.2103C>A
ENST00000647322.1:c.714C>A
ENST00000647418.1:c.*897C>A ENSP00000493552.1:n.*897C>A
ENST00000647428.1:c.784C>A ENSP00000495630.1:p.Pro262Thr
ENST00000651186.1:c.784C>A ENSP00000498645.1:p.Pro262Thr
ENST00000366601.7:c.1123C>A ENSP00000355560.3:p.Pro375Thr
ENST00000406207.4:c.1123C>A ENSP00000384571.1:p.Pro375Thr
ENST00000472011.5:n.1175C>A
ENST00000543662.3:c.1276C>A ENSP00000439170.1:p.Pro426Thr
NM_001079515.2:c.1123C>A NP_001072983.1:p.Pro375Thr
NM_001287801.1:c.1276C>A NP_001274730.1:p.Pro426Thr
NM_001287802.1:c.784C>A NP_001274731.1:p.Pro262Thr
NM_003193.4:c.1123C>A NP_003184.1:p.Pro375Thr
NM_003193.5:c.1123C>A MANE Select NP_003184.1:p.Pro375Thr
NM_001079515.3:c.1123C>A NP_001072983.1:p.Pro375Thr
NM_001287801.2:c.1276C>A NP_001274730.1:p.Pro426Thr
NM_001287802.2:c.784C>A NP_001274731.1:p.Pro262Thr