Canonical Allele Identifier: CA1143476969
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438926C= , CM000663.2:g.235438926C= GRCh38
NC_000001.10:g.235602241C= , CM000663.1:g.235602241C= GRCh37
NC_000001.9:g.233668864C= NCBI36
NG_009230.1:g.76514C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1081+4C= ENSP00000355560.4:n.1081+4C=
ENST00000406207.5:c.1270+4C= ENSP00000384571.1:n.1270+4C=
ENST00000472011.6:n.1994+4C=
ENST00000543662.4:c.1423+4C= ENSP00000439170.1:n.1423+4C=
ENST00000642339.1:c.*967+4C= ENSP00000495425.1:n.*967+4C=
ENST00000642431.1:c.1847+4C=
ENST00000642463.1:c.*1168+4C= ENSP00000495007.1:n.*1168+4C=
ENST00000642503.1:c.*1044+4C= ENSP00000494334.1:n.*1044+4C=
ENST00000642610.2:c.1270+4C= MANE Select ENSP00000494796.1:n.1270+4C=
ENST00000642764.1:n.2101+4C=
ENST00000643125.1:c.*285+4C= ENSP00000494102.1:n.*285+4C=
ENST00000643142.1:c.*761+4C= ENSP00000494755.1:n.*761+4C=
ENST00000643238.1:c.*290+4C= ENSP00000495916.1:n.*290+4C=
ENST00000643410.1:c.*560+4C= ENSP00000495030.1:n.*560+4C=
ENST00000643487.1:n.1957+4C=
ENST00000643524.1:c.*855+4C= ENSP00000494026.1:n.*855+4C=
ENST00000643615.1:c.*1116+1452C= ENSP00000496103.1:n.*1116+1452C=
ENST00000643993.1:n.1406+4C=
ENST00000643994.1:c.*1270+4C= ENSP00000496322.1:n.*1270+4C=
ENST00000644037.1:c.*1480+4C= ENSP00000496408.1:n.*1480+4C=
ENST00000644055.1:c.*1895+4C= ENSP00000496307.1:n.*1895+4C=
ENST00000644126.1:n.2942+4C=
ENST00000644217.1:c.1274C= ENSP00000494646.1:p.Thr425=
ENST00000644265.1:c.639+4C=
ENST00000644578.1:c.1088C= ENSP00000495953.1:p.Thr363=
ENST00000644604.1:c.1270+4C= ENSP00000495961.1:n.1270+4C=
ENST00000644680.1:c.*1791+4C= ENSP00000496173.1:n.*1791+4C=
ENST00000644838.1:c.*653+4C= ENSP00000495910.1:n.*653+4C=
ENST00000644910.1:c.1877+4C=
ENST00000645205.1:c.1270+4C= ENSP00000495823.1:n.1270+4C=
ENST00000645351.1:c.1270+4C= ENSP00000494319.1:n.1270+4C=
ENST00000645551.1:c.*987+4C= ENSP00000495928.1:n.*987+4C=
ENST00000645578.1:c.*1044+4C= ENSP00000496495.1:n.*1044+4C=
ENST00000645582.1:c.*1100+4C= ENSP00000494980.1:n.*1100+4C=
ENST00000645655.1:c.1270+4C= ENSP00000495202.1:n.1270+4C=
ENST00000645836.1:c.*1044+4C= ENSP00000493915.1:n.*1044+4C=
ENST00000645899.1:c.1270+4C= ENSP00000496773.1:n.1270+4C=
ENST00000645964.1:c.*1136+4C= ENSP00000494208.1:n.*1136+4C=
ENST00000646104.1:c.*1738+4C= ENSP00000495475.1:n.*1738+4C=
ENST00000646186.1:c.*942+4C= ENSP00000493806.1:n.*942+4C=
ENST00000646286.1:c.*1163+4C= ENSP00000494291.1:n.*1163+4C=
ENST00000646463.1:c.*1035+4C= ENSP00000494541.1:n.*1035+4C=
ENST00000646528.1:c.*1986+4C= ENSP00000496553.1:n.*1986+4C=
ENST00000646536.1:c.*564C= ENSP00000494801.1:n.*564C=
ENST00000646624.1:c.1270+4C= ENSP00000494575.1:n.1270+4C=
ENST00000646821.1:c.*560+4C= ENSP00000495257.1:n.*560+4C=
ENST00000646842.1:n.714+4C=
ENST00000646848.1:c.*485+4C= ENSP00000495831.1:n.*485+4C=
ENST00000647186.1:c.1270+4C= ENSP00000494775.1:n.1270+4C=
ENST00000647233.1:n.2250+4C=
ENST00000647322.1:c.861+4C=
ENST00000647418.1:c.*1044+4C= ENSP00000493552.1:n.*1044+4C=
ENST00000647428.1:c.931+4C= ENSP00000495630.1:n.931+4C=
ENST00000651186.1:c.931+4C= ENSP00000498645.1:n.931+4C=
ENST00000366601.7:c.1270+4C= ENSP00000355560.3:n.1270+4C=
ENST00000406207.4:c.1270+4C= ENSP00000384571.1:n.1270+4C=
ENST00000472011.5:n.1322+4C=
ENST00000543662.3:c.1423+4C= ENSP00000439170.1:n.1423+4C=
NM_001079515.2:c.1270+4C= NP_001072983.1:n.1270+4C=
NM_001287801.1:c.1423+4C= NP_001274730.1:n.1423+4C=
NM_001287802.1:c.931+4C= NP_001274731.1:n.931+4C=
NM_003193.4:c.1270+4C= NP_003184.1:n.1270+4C=
NM_003193.5:c.1270+4C= MANE Select NP_003184.1:n.1270+4C=
NM_001079515.3:c.1270+4C= NP_001072983.1:n.1270+4C=
NM_001287801.2:c.1423+4C= NP_001274730.1:n.1423+4C=
NM_001287802.2:c.931+4C= NP_001274731.1:n.931+4C=