Canonical Allele Identifier: CA1141581434
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235437471T= , CM000663.2:g.235437471T= GRCh38
NC_000001.10:g.235600786T= , CM000663.1:g.235600786T= GRCh37
NC_000001.9:g.233667409T= NCBI36
NG_009230.1:g.75059T=

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.1113T= MANE Select NP_003184.1:p.Cys371=
ENST00000642610.2:c.1113T= MANE Select ENSP00000494796.1:p.Cys371=
NM_001079515.2:c.1113T= NP_001072983.1:p.Cys371=
NM_001079515.3:c.1113T= NP_001072983.1:p.Cys371=
NM_001287801.1:c.1266T= NP_001274730.1:p.Cys422=
NM_001287801.2:c.1266T= NP_001274730.1:p.Cys422=
NM_001287802.1:c.774T= NP_001274731.1:p.Cys258=
NM_001287802.2:c.774T= NP_001274731.1:p.Cys258=
NM_003193.4:c.1113T= NP_003184.1:p.Cys371=
ENST00000366601.7:c.1113T= ENSP00000355560.3:p.Cys371=
ENST00000366601.8:c.924T= ENSP00000355560.4:p.Cys308=
ENST00000406207.4:c.1113T= ENSP00000384571.1:p.Cys371=
ENST00000406207.5:c.1113T= ENSP00000384571.1:p.Cys371=
ENST00000472011.5:n.1165T=
ENST00000472011.6:n.1837T=
ENST00000543662.3:c.1266T= ENSP00000439170.1:p.Cys422=
ENST00000543662.4:c.1266T= ENSP00000439170.1:p.Cys422=
ENST00000642339.1:c.*810T= ENSP00000495425.1:n.*810T=
ENST00000642431.1:c.1690T=
ENST00000642463.1:c.*1011T= ENSP00000495007.1:n.*1011T=
ENST00000642503.1:c.*887T= ENSP00000494334.1:n.*887T=
ENST00000642764.1:n.1944T=
ENST00000643125.1:c.*128T= ENSP00000494102.1:n.*128T=
ENST00000643142.1:c.*604T= ENSP00000494755.1:n.*604T=
ENST00000643238.1:c.*133T= ENSP00000495916.1:n.*133T=
ENST00000643410.1:c.*403T= ENSP00000495030.1:n.*403T=
ENST00000643487.1:n.1800T=
ENST00000643524.1:c.*698T= ENSP00000494026.1:n.*698T=
ENST00000643615.1:c.*1113T= ENSP00000496103.1:n.*1113T=
ENST00000643993.1:n.1249T=
ENST00000643994.1:c.*1113T= ENSP00000496322.1:n.*1113T=
ENST00000644037.1:c.*1323T= ENSP00000496408.1:n.*1323T=
ENST00000644055.1:c.*1738T= ENSP00000496307.1:n.*1738T=
ENST00000644126.1:n.2785T=
ENST00000644217.1:c.1113T= ENSP00000494646.1:p.Cys371=
ENST00000644265.1:c.482T=
ENST00000644578.1:c.927T= ENSP00000495953.1:p.Cys309=
ENST00000644604.1:c.1113T= ENSP00000495961.1:p.Cys371=
ENST00000644680.1:c.*1634T= ENSP00000496173.1:n.*1634T=
ENST00000644838.1:c.*496T= ENSP00000495910.1:n.*496T=
ENST00000644910.1:c.1720T=
ENST00000645205.1:c.1113T= ENSP00000495823.1:p.Cys371=
ENST00000645351.1:c.1113T= ENSP00000494319.1:p.Cys371=
ENST00000645551.1:c.*830T= ENSP00000495928.1:n.*830T=
ENST00000645578.1:c.*887T= ENSP00000496495.1:n.*887T=
ENST00000645582.1:c.*943T= ENSP00000494980.1:n.*943T=
ENST00000645655.1:c.1113T= ENSP00000495202.1:p.Cys371=
ENST00000645662.1:c.*572T= ENSP00000495964.1:n.*572T=
ENST00000645836.1:c.*887T= ENSP00000493915.1:n.*887T=
ENST00000645899.1:c.1113T= ENSP00000496773.1:p.Cys371=
ENST00000645964.1:c.*979T= ENSP00000494208.1:n.*979T=
ENST00000646104.1:c.*1581T= ENSP00000495475.1:n.*1581T=
ENST00000646186.1:c.*785T= ENSP00000493806.1:n.*785T=
ENST00000646286.1:c.*1006T= ENSP00000494291.1:n.*1006T=
ENST00000646463.1:c.*878T= ENSP00000494541.1:n.*878T=
ENST00000646528.1:c.*1829T= ENSP00000496553.1:n.*1829T=
ENST00000646536.1:c.*403T= ENSP00000494801.1:n.*403T=
ENST00000646624.1:c.1113T= ENSP00000494575.1:p.Cys371=
ENST00000646821.1:c.*403T= ENSP00000495257.1:n.*403T=
ENST00000646842.1:n.557T=
ENST00000646848.1:c.*328T= ENSP00000495831.1:n.*328T=
ENST00000647186.1:c.1113T= ENSP00000494775.1:p.Cys371=
ENST00000647233.1:n.2093T=
ENST00000647322.1:c.704T=
ENST00000647418.1:c.*887T= ENSP00000493552.1:n.*887T=
ENST00000647428.1:c.774T= ENSP00000495630.1:p.Cys258=
ENST00000651186.1:c.774T= ENSP00000498645.1:p.Cys258=