Canonical Allele Identifier: CA344945469
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438869G>A , CM000663.2:g.235438869G>A GRCh38
NC_000001.10:g.235602184G>A , CM000663.1:g.235602184G>A GRCh37
NC_000001.9:g.233668807G>A NCBI36
NG_009230.1:g.76457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1028G>A ENSP00000355560.4:p.Arg343Lys
ENST00000406207.5:c.1217G>A ENSP00000384571.1:p.Arg406Lys
ENST00000472011.6:n.1941G>A
ENST00000543662.4:c.1370G>A ENSP00000439170.1:p.Arg457Lys
ENST00000642339.1:c.*914G>A ENSP00000495425.1:n.*914G>A
ENST00000642431.1:c.1794G>A
ENST00000642463.1:c.*1115G>A ENSP00000495007.1:n.*1115G>A
ENST00000642503.1:c.*991G>A ENSP00000494334.1:n.*991G>A
ENST00000642610.2:c.1217G>A MANE Select ENSP00000494796.1:p.Arg406Lys
ENST00000642764.1:n.2048G>A
ENST00000643125.1:c.*232G>A ENSP00000494102.1:n.*232G>A
ENST00000643142.1:c.*708G>A ENSP00000494755.1:n.*708G>A
ENST00000643238.1:c.*237G>A ENSP00000495916.1:n.*237G>A
ENST00000643410.1:c.*507G>A ENSP00000495030.1:n.*507G>A
ENST00000643487.1:n.1904G>A
ENST00000643524.1:c.*802G>A ENSP00000494026.1:n.*802G>A
ENST00000643615.1:c.*1116+1395G>A ENSP00000496103.1:n.*1116+1395G>A
ENST00000643993.1:n.1353G>A
ENST00000643994.1:c.*1217G>A ENSP00000496322.1:n.*1217G>A
ENST00000644037.1:c.*1427G>A ENSP00000496408.1:n.*1427G>A
ENST00000644055.1:c.*1842G>A ENSP00000496307.1:n.*1842G>A
ENST00000644126.1:n.2889G>A
ENST00000644217.1:c.1217G>A ENSP00000494646.1:p.Arg406Lys
ENST00000644265.1:c.586G>A
ENST00000644578.1:c.1031G>A ENSP00000495953.1:p.Arg344Lys
ENST00000644604.1:c.1217G>A ENSP00000495961.1:p.Arg406Lys
ENST00000644680.1:c.*1738G>A ENSP00000496173.1:n.*1738G>A
ENST00000644838.1:c.*600G>A ENSP00000495910.1:n.*600G>A
ENST00000644910.1:c.1824G>A
ENST00000645205.1:c.1217G>A ENSP00000495823.1:p.Arg406Lys
ENST00000645351.1:c.1217G>A ENSP00000494319.1:p.Arg406Lys
ENST00000645551.1:c.*934G>A ENSP00000495928.1:n.*934G>A
ENST00000645578.1:c.*991G>A ENSP00000496495.1:n.*991G>A
ENST00000645582.1:c.*1047G>A ENSP00000494980.1:n.*1047G>A
ENST00000645655.1:c.1217G>A ENSP00000495202.1:p.Arg406Lys
ENST00000645662.1:c.*676G>A ENSP00000495964.1:n.*676G>A
ENST00000645836.1:c.*991G>A ENSP00000493915.1:n.*991G>A
ENST00000645899.1:c.1217G>A ENSP00000496773.1:p.Arg406Lys
ENST00000645964.1:c.*1083G>A ENSP00000494208.1:n.*1083G>A
ENST00000646104.1:c.*1685G>A ENSP00000495475.1:n.*1685G>A
ENST00000646186.1:c.*889G>A ENSP00000493806.1:n.*889G>A
ENST00000646286.1:c.*1110G>A ENSP00000494291.1:n.*1110G>A
ENST00000646463.1:c.*982G>A ENSP00000494541.1:n.*982G>A
ENST00000646528.1:c.*1933G>A ENSP00000496553.1:n.*1933G>A
ENST00000646536.1:c.*507G>A ENSP00000494801.1:n.*507G>A
ENST00000646624.1:c.1217G>A ENSP00000494575.1:p.Arg406Lys
ENST00000646821.1:c.*507G>A ENSP00000495257.1:n.*507G>A
ENST00000646842.1:n.661G>A
ENST00000646848.1:c.*432G>A ENSP00000495831.1:n.*432G>A
ENST00000647186.1:c.1217G>A ENSP00000494775.1:p.Arg406Lys
ENST00000647233.1:n.2197G>A
ENST00000647322.1:c.808G>A
ENST00000647418.1:c.*991G>A ENSP00000493552.1:n.*991G>A
ENST00000647428.1:c.878G>A ENSP00000495630.1:p.Arg293Lys
ENST00000651186.1:c.878G>A ENSP00000498645.1:p.Arg293Lys
ENST00000366601.7:c.1217G>A ENSP00000355560.3:p.Arg406Lys
ENST00000406207.4:c.1217G>A ENSP00000384571.1:p.Arg406Lys
ENST00000472011.5:n.1269G>A
ENST00000543662.3:c.1370G>A ENSP00000439170.1:p.Arg457Lys
NM_001079515.2:c.1217G>A NP_001072983.1:p.Arg406Lys
NM_001287801.1:c.1370G>A NP_001274730.1:p.Arg457Lys
NM_001287802.1:c.878G>A NP_001274731.1:p.Arg293Lys
NM_003193.4:c.1217G>A NP_003184.1:p.Arg406Lys
NM_003193.5:c.1217G>A MANE Select NP_003184.1:p.Arg406Lys
NM_001079515.3:c.1217G>A NP_001072983.1:p.Arg406Lys
NM_001287801.2:c.1370G>A NP_001274730.1:p.Arg457Lys
NM_001287802.2:c.878G>A NP_001274731.1:p.Arg293Lys