Canonical Allele Identifier: CA344945990
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438914T>A , CM000663.2:g.235438914T>A GRCh38
NC_000001.10:g.235602229T>A , CM000663.1:g.235602229T>A GRCh37
NC_000001.9:g.233668852T>A NCBI36
NG_009230.1:g.76502T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1073T>A ENSP00000355560.4:p.Leu358His
ENST00000406207.5:c.1262T>A ENSP00000384571.1:p.Leu421His
ENST00000472011.6:n.1986T>A
ENST00000543662.4:c.1415T>A ENSP00000439170.1:p.Leu472His
ENST00000642339.1:c.*959T>A ENSP00000495425.1:n.*959T>A
ENST00000642431.1:c.1839T>A
ENST00000642463.1:c.*1160T>A ENSP00000495007.1:n.*1160T>A
ENST00000642503.1:c.*1036T>A ENSP00000494334.1:n.*1036T>A
ENST00000642610.2:c.1262T>A MANE Select ENSP00000494796.1:p.Leu421His
ENST00000642764.1:n.2093T>A
ENST00000643125.1:c.*277T>A ENSP00000494102.1:n.*277T>A
ENST00000643142.1:c.*753T>A ENSP00000494755.1:n.*753T>A
ENST00000643238.1:c.*282T>A ENSP00000495916.1:n.*282T>A
ENST00000643410.1:c.*552T>A ENSP00000495030.1:n.*552T>A
ENST00000643487.1:n.1949T>A
ENST00000643524.1:c.*847T>A ENSP00000494026.1:n.*847T>A
ENST00000643615.1:c.*1116+1440T>A ENSP00000496103.1:n.*1116+1440T>A
ENST00000643993.1:n.1398T>A
ENST00000643994.1:c.*1262T>A ENSP00000496322.1:n.*1262T>A
ENST00000644037.1:c.*1472T>A ENSP00000496408.1:n.*1472T>A
ENST00000644055.1:c.*1887T>A ENSP00000496307.1:n.*1887T>A
ENST00000644126.1:n.2934T>A
ENST00000644217.1:c.1262T>A ENSP00000494646.1:p.Leu421His
ENST00000644265.1:c.631T>A
ENST00000644578.1:c.1076T>A ENSP00000495953.1:p.Leu359His
ENST00000644604.1:c.1262T>A ENSP00000495961.1:p.Leu421His
ENST00000644680.1:c.*1783T>A ENSP00000496173.1:n.*1783T>A
ENST00000644838.1:c.*645T>A ENSP00000495910.1:n.*645T>A
ENST00000644910.1:c.1869T>A
ENST00000645205.1:c.1262T>A ENSP00000495823.1:p.Leu421His
ENST00000645351.1:c.1262T>A ENSP00000494319.1:p.Leu421His
ENST00000645551.1:c.*979T>A ENSP00000495928.1:n.*979T>A
ENST00000645578.1:c.*1036T>A ENSP00000496495.1:n.*1036T>A
ENST00000645582.1:c.*1092T>A ENSP00000494980.1:n.*1092T>A
ENST00000645655.1:c.1262T>A ENSP00000495202.1:p.Leu421His
ENST00000645836.1:c.*1036T>A ENSP00000493915.1:n.*1036T>A
ENST00000645899.1:c.1262T>A ENSP00000496773.1:p.Leu421His
ENST00000645964.1:c.*1128T>A ENSP00000494208.1:n.*1128T>A
ENST00000646104.1:c.*1730T>A ENSP00000495475.1:n.*1730T>A
ENST00000646186.1:c.*934T>A ENSP00000493806.1:n.*934T>A
ENST00000646286.1:c.*1155T>A ENSP00000494291.1:n.*1155T>A
ENST00000646463.1:c.*1027T>A ENSP00000494541.1:n.*1027T>A
ENST00000646528.1:c.*1978T>A ENSP00000496553.1:n.*1978T>A
ENST00000646536.1:c.*552T>A ENSP00000494801.1:n.*552T>A
ENST00000646624.1:c.1262T>A ENSP00000494575.1:p.Leu421His
ENST00000646821.1:c.*552T>A ENSP00000495257.1:n.*552T>A
ENST00000646842.1:n.706T>A
ENST00000646848.1:c.*477T>A ENSP00000495831.1:n.*477T>A
ENST00000647186.1:c.1262T>A ENSP00000494775.1:p.Leu421His
ENST00000647233.1:n.2242T>A
ENST00000647322.1:c.853T>A
ENST00000647418.1:c.*1036T>A ENSP00000493552.1:n.*1036T>A
ENST00000647428.1:c.923T>A ENSP00000495630.1:p.Leu308His
ENST00000651186.1:c.923T>A ENSP00000498645.1:p.Leu308His
ENST00000366601.7:c.1262T>A ENSP00000355560.3:p.Leu421His
ENST00000406207.4:c.1262T>A ENSP00000384571.1:p.Leu421His
ENST00000472011.5:n.1314T>A
ENST00000543662.3:c.1415T>A ENSP00000439170.1:p.Leu472His
NM_001079515.2:c.1262T>A NP_001072983.1:p.Leu421His
NM_001287801.1:c.1415T>A NP_001274730.1:p.Leu472His
NM_001287802.1:c.923T>A NP_001274731.1:p.Leu308His
NM_003193.4:c.1262T>A NP_003184.1:p.Leu421His
NM_003193.5:c.1262T>A MANE Select NP_003184.1:p.Leu421His
NM_001079515.3:c.1262T>A NP_001072983.1:p.Leu421His
NM_001287801.2:c.1415T>A NP_001274730.1:p.Leu472His
NM_001287802.2:c.923T>A NP_001274731.1:p.Leu308His