Canonical Allele Identifier: CA2486499876
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438814G= , CM000663.2:g.235438814G= GRCh38
NC_000001.10:g.235602129G= , CM000663.1:g.235602129G= GRCh37
NC_000001.9:g.233668752G= NCBI36
NG_009230.1:g.76402G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.973G= ENSP00000355560.4:p.Ala325=
ENST00000406207.5:c.1162G= ENSP00000384571.1:p.Ala388=
ENST00000472011.6:n.1886G=
ENST00000543662.4:c.1315G= ENSP00000439170.1:p.Ala439=
ENST00000642339.1:c.*859G= ENSP00000495425.1:n.*859G=
ENST00000642431.1:c.1739G=
ENST00000642463.1:c.*1060G= ENSP00000495007.1:n.*1060G=
ENST00000642503.1:c.*936G= ENSP00000494334.1:n.*936G=
ENST00000642610.2:c.1162G= MANE Select ENSP00000494796.1:p.Ala388=
ENST00000642764.1:n.1993G=
ENST00000643125.1:c.*177G= ENSP00000494102.1:n.*177G=
ENST00000643142.1:c.*653G= ENSP00000494755.1:n.*653G=
ENST00000643238.1:c.*182G= ENSP00000495916.1:n.*182G=
ENST00000643410.1:c.*452G= ENSP00000495030.1:n.*452G=
ENST00000643487.1:n.1849G=
ENST00000643524.1:c.*747G= ENSP00000494026.1:n.*747G=
ENST00000643615.1:c.*1116+1340G= ENSP00000496103.1:n.*1116+1340G=
ENST00000643993.1:n.1298G=
ENST00000643994.1:c.*1162G= ENSP00000496322.1:n.*1162G=
ENST00000644037.1:c.*1372G= ENSP00000496408.1:n.*1372G=
ENST00000644055.1:c.*1787G= ENSP00000496307.1:n.*1787G=
ENST00000644126.1:n.2834G=
ENST00000644217.1:c.1162G= ENSP00000494646.1:p.Ala388=
ENST00000644265.1:c.531G=
ENST00000644578.1:c.976G= ENSP00000495953.1:p.Ala326=
ENST00000644604.1:c.1162G= ENSP00000495961.1:p.Ala388=
ENST00000644680.1:c.*1683G= ENSP00000496173.1:n.*1683G=
ENST00000644838.1:c.*545G= ENSP00000495910.1:n.*545G=
ENST00000644910.1:c.1769G=
ENST00000645205.1:c.1162G= ENSP00000495823.1:p.Ala388=
ENST00000645351.1:c.1162G= ENSP00000494319.1:p.Ala388=
ENST00000645551.1:c.*879G= ENSP00000495928.1:n.*879G=
ENST00000645578.1:c.*936G= ENSP00000496495.1:n.*936G=
ENST00000645582.1:c.*992G= ENSP00000494980.1:n.*992G=
ENST00000645655.1:c.1162G= ENSP00000495202.1:p.Ala388=
ENST00000645662.1:c.*621G= ENSP00000495964.1:n.*621G=
ENST00000645836.1:c.*936G= ENSP00000493915.1:n.*936G=
ENST00000645899.1:c.1162G= ENSP00000496773.1:p.Ala388=
ENST00000645964.1:c.*1028G= ENSP00000494208.1:n.*1028G=
ENST00000646104.1:c.*1630G= ENSP00000495475.1:n.*1630G=
ENST00000646186.1:c.*834G= ENSP00000493806.1:n.*834G=
ENST00000646286.1:c.*1055G= ENSP00000494291.1:n.*1055G=
ENST00000646463.1:c.*927G= ENSP00000494541.1:n.*927G=
ENST00000646528.1:c.*1878G= ENSP00000496553.1:n.*1878G=
ENST00000646536.1:c.*452G= ENSP00000494801.1:n.*452G=
ENST00000646624.1:c.1162G= ENSP00000494575.1:p.Ala388=
ENST00000646821.1:c.*452G= ENSP00000495257.1:n.*452G=
ENST00000646842.1:n.606G=
ENST00000646848.1:c.*377G= ENSP00000495831.1:n.*377G=
ENST00000647186.1:c.1162G= ENSP00000494775.1:p.Ala388=
ENST00000647233.1:n.2142G=
ENST00000647322.1:c.753G=
ENST00000647418.1:c.*936G= ENSP00000493552.1:n.*936G=
ENST00000647428.1:c.823G= ENSP00000495630.1:p.Ala275=
ENST00000651186.1:c.823G= ENSP00000498645.1:p.Ala275=
ENST00000366601.7:c.1162G= ENSP00000355560.3:p.Ala388=
ENST00000406207.4:c.1162G= ENSP00000384571.1:p.Ala388=
ENST00000472011.5:n.1214G=
ENST00000543662.3:c.1315G= ENSP00000439170.1:p.Ala439=
NM_001079515.2:c.1162G= NP_001072983.1:p.Ala388=
NM_001287801.1:c.1315G= NP_001274730.1:p.Ala439=
NM_001287802.1:c.823G= NP_001274731.1:p.Ala275=
NM_003193.4:c.1162G= NP_003184.1:p.Ala388=
NM_003193.5:c.1162G= MANE Select NP_003184.1:p.Ala388=
NM_001079515.3:c.1162G= NP_001072983.1:p.Ala388=
NM_001287801.2:c.1315G= NP_001274730.1:p.Ala439=
NM_001287802.2:c.823G= NP_001274731.1:p.Ala275=