Canonical Allele Identifier: CA2486499860
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438774C= , CM000663.2:g.235438774C= GRCh38
NC_000001.10:g.235602089C= , CM000663.1:g.235602089C= GRCh37
NC_000001.9:g.233668712C= NCBI36
NG_009230.1:g.76362C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.933C= ENSP00000355560.4:p.Leu311=
ENST00000406207.5:c.1122C= ENSP00000384571.1:p.Leu374=
ENST00000472011.6:n.1846C=
ENST00000543662.4:c.1275C= ENSP00000439170.1:p.Leu425=
ENST00000642339.1:c.*819C= ENSP00000495425.1:n.*819C=
ENST00000642431.1:c.1699C=
ENST00000642463.1:c.*1020C= ENSP00000495007.1:n.*1020C=
ENST00000642503.1:c.*896C= ENSP00000494334.1:n.*896C=
ENST00000642610.2:c.1122C= MANE Select ENSP00000494796.1:p.Leu374=
ENST00000642764.1:n.1953C=
ENST00000643125.1:c.*137C= ENSP00000494102.1:n.*137C=
ENST00000643142.1:c.*613C= ENSP00000494755.1:n.*613C=
ENST00000643238.1:c.*142C= ENSP00000495916.1:n.*142C=
ENST00000643410.1:c.*412C= ENSP00000495030.1:n.*412C=
ENST00000643487.1:n.1809C=
ENST00000643524.1:c.*707C= ENSP00000494026.1:n.*707C=
ENST00000643615.1:c.*1116+1300C= ENSP00000496103.1:n.*1116+1300C=
ENST00000643993.1:n.1258C=
ENST00000643994.1:c.*1122C= ENSP00000496322.1:n.*1122C=
ENST00000644037.1:c.*1332C= ENSP00000496408.1:n.*1332C=
ENST00000644055.1:c.*1747C= ENSP00000496307.1:n.*1747C=
ENST00000644126.1:n.2794C=
ENST00000644217.1:c.1122C= ENSP00000494646.1:p.Leu374=
ENST00000644265.1:c.491C=
ENST00000644578.1:c.936C= ENSP00000495953.1:p.Leu312=
ENST00000644604.1:c.1122C= ENSP00000495961.1:p.Leu374=
ENST00000644680.1:c.*1643C= ENSP00000496173.1:n.*1643C=
ENST00000644838.1:c.*505C= ENSP00000495910.1:n.*505C=
ENST00000644910.1:c.1729C=
ENST00000645205.1:c.1122C= ENSP00000495823.1:p.Leu374=
ENST00000645351.1:c.1122C= ENSP00000494319.1:p.Leu374=
ENST00000645551.1:c.*839C= ENSP00000495928.1:n.*839C=
ENST00000645578.1:c.*896C= ENSP00000496495.1:n.*896C=
ENST00000645582.1:c.*952C= ENSP00000494980.1:n.*952C=
ENST00000645655.1:c.1122C= ENSP00000495202.1:p.Leu374=
ENST00000645662.1:c.*581C= ENSP00000495964.1:n.*581C=
ENST00000645836.1:c.*896C= ENSP00000493915.1:n.*896C=
ENST00000645899.1:c.1122C= ENSP00000496773.1:p.Leu374=
ENST00000645964.1:c.*988C= ENSP00000494208.1:n.*988C=
ENST00000646104.1:c.*1590C= ENSP00000495475.1:n.*1590C=
ENST00000646186.1:c.*794C= ENSP00000493806.1:n.*794C=
ENST00000646286.1:c.*1015C= ENSP00000494291.1:n.*1015C=
ENST00000646463.1:c.*887C= ENSP00000494541.1:n.*887C=
ENST00000646528.1:c.*1838C= ENSP00000496553.1:n.*1838C=
ENST00000646536.1:c.*412C= ENSP00000494801.1:n.*412C=
ENST00000646624.1:c.1122C= ENSP00000494575.1:p.Leu374=
ENST00000646821.1:c.*412C= ENSP00000495257.1:n.*412C=
ENST00000646842.1:n.566C=
ENST00000646848.1:c.*337C= ENSP00000495831.1:n.*337C=
ENST00000647186.1:c.1122C= ENSP00000494775.1:p.Leu374=
ENST00000647233.1:n.2102C=
ENST00000647322.1:c.713C=
ENST00000647418.1:c.*896C= ENSP00000493552.1:n.*896C=
ENST00000647428.1:c.783C= ENSP00000495630.1:p.Leu261=
ENST00000651186.1:c.783C= ENSP00000498645.1:p.Leu261=
ENST00000366601.7:c.1122C= ENSP00000355560.3:p.Leu374=
ENST00000406207.4:c.1122C= ENSP00000384571.1:p.Leu374=
ENST00000472011.5:n.1174C=
ENST00000543662.3:c.1275C= ENSP00000439170.1:p.Leu425=
NM_001079515.2:c.1122C= NP_001072983.1:p.Leu374=
NM_001287801.1:c.1275C= NP_001274730.1:p.Leu425=
NM_001287802.1:c.783C= NP_001274731.1:p.Leu261=
NM_003193.4:c.1122C= NP_003184.1:p.Leu374=
NM_003193.5:c.1122C= MANE Select NP_003184.1:p.Leu374=
NM_001079515.3:c.1122C= NP_001072983.1:p.Leu374=
NM_001287801.2:c.1275C= NP_001274730.1:p.Leu425=
NM_001287802.2:c.783C= NP_001274731.1:p.Leu261=