Canonical Allele Identifier: CA344944927
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438807C>G , CM000663.2:g.235438807C>G GRCh38
NC_000001.10:g.235602122C>G , CM000663.1:g.235602122C>G GRCh37
NC_000001.9:g.233668745C>G NCBI36
NG_009230.1:g.76395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.966C>G ENSP00000355560.4:p.Tyr322Ter
ENST00000406207.5:c.1155C>G ENSP00000384571.1:p.Tyr385Ter
ENST00000472011.6:n.1879C>G
ENST00000543662.4:c.1308C>G ENSP00000439170.1:p.Tyr436Ter
ENST00000642339.1:c.*852C>G ENSP00000495425.1:n.*852C>G
ENST00000642431.1:c.1732C>G
ENST00000642463.1:c.*1053C>G ENSP00000495007.1:n.*1053C>G
ENST00000642503.1:c.*929C>G ENSP00000494334.1:n.*929C>G
ENST00000642610.2:c.1155C>G MANE Select ENSP00000494796.1:p.Tyr385Ter
ENST00000642764.1:n.1986C>G
ENST00000643125.1:c.*170C>G ENSP00000494102.1:n.*170C>G
ENST00000643142.1:c.*646C>G ENSP00000494755.1:n.*646C>G
ENST00000643238.1:c.*175C>G ENSP00000495916.1:n.*175C>G
ENST00000643410.1:c.*445C>G ENSP00000495030.1:n.*445C>G
ENST00000643487.1:n.1842C>G
ENST00000643524.1:c.*740C>G ENSP00000494026.1:n.*740C>G
ENST00000643615.1:c.*1116+1333C>G ENSP00000496103.1:n.*1116+1333C>G
ENST00000643993.1:n.1291C>G
ENST00000643994.1:c.*1155C>G ENSP00000496322.1:n.*1155C>G
ENST00000644037.1:c.*1365C>G ENSP00000496408.1:n.*1365C>G
ENST00000644055.1:c.*1780C>G ENSP00000496307.1:n.*1780C>G
ENST00000644126.1:n.2827C>G
ENST00000644217.1:c.1155C>G ENSP00000494646.1:p.Tyr385Ter
ENST00000644265.1:c.524C>G
ENST00000644578.1:c.969C>G ENSP00000495953.1:p.Tyr323Ter
ENST00000644604.1:c.1155C>G ENSP00000495961.1:p.Tyr385Ter
ENST00000644680.1:c.*1676C>G ENSP00000496173.1:n.*1676C>G
ENST00000644838.1:c.*538C>G ENSP00000495910.1:n.*538C>G
ENST00000644910.1:c.1762C>G
ENST00000645205.1:c.1155C>G ENSP00000495823.1:p.Tyr385Ter
ENST00000645351.1:c.1155C>G ENSP00000494319.1:p.Tyr385Ter
ENST00000645551.1:c.*872C>G ENSP00000495928.1:n.*872C>G
ENST00000645578.1:c.*929C>G ENSP00000496495.1:n.*929C>G
ENST00000645582.1:c.*985C>G ENSP00000494980.1:n.*985C>G
ENST00000645655.1:c.1155C>G ENSP00000495202.1:p.Tyr385Ter
ENST00000645662.1:c.*614C>G ENSP00000495964.1:n.*614C>G
ENST00000645836.1:c.*929C>G ENSP00000493915.1:n.*929C>G
ENST00000645899.1:c.1155C>G ENSP00000496773.1:p.Tyr385Ter
ENST00000645964.1:c.*1021C>G ENSP00000494208.1:n.*1021C>G
ENST00000646104.1:c.*1623C>G ENSP00000495475.1:n.*1623C>G
ENST00000646186.1:c.*827C>G ENSP00000493806.1:n.*827C>G
ENST00000646286.1:c.*1048C>G ENSP00000494291.1:n.*1048C>G
ENST00000646463.1:c.*920C>G ENSP00000494541.1:n.*920C>G
ENST00000646528.1:c.*1871C>G ENSP00000496553.1:n.*1871C>G
ENST00000646536.1:c.*445C>G ENSP00000494801.1:n.*445C>G
ENST00000646624.1:c.1155C>G ENSP00000494575.1:p.Tyr385Ter
ENST00000646821.1:c.*445C>G ENSP00000495257.1:n.*445C>G
ENST00000646842.1:n.599C>G
ENST00000646848.1:c.*370C>G ENSP00000495831.1:n.*370C>G
ENST00000647186.1:c.1155C>G ENSP00000494775.1:p.Tyr385Ter
ENST00000647233.1:n.2135C>G
ENST00000647322.1:c.746C>G
ENST00000647418.1:c.*929C>G ENSP00000493552.1:n.*929C>G
ENST00000647428.1:c.816C>G ENSP00000495630.1:p.Tyr272Ter
ENST00000651186.1:c.816C>G ENSP00000498645.1:p.Tyr272Ter
ENST00000366601.7:c.1155C>G ENSP00000355560.3:p.Tyr385Ter
ENST00000406207.4:c.1155C>G ENSP00000384571.1:p.Tyr385Ter
ENST00000472011.5:n.1207C>G
ENST00000543662.3:c.1308C>G ENSP00000439170.1:p.Tyr436Ter
NM_001079515.2:c.1155C>G NP_001072983.1:p.Tyr385Ter
NM_001287801.1:c.1308C>G NP_001274730.1:p.Tyr436Ter
NM_001287802.1:c.816C>G NP_001274731.1:p.Tyr272Ter
NM_003193.4:c.1155C>G NP_003184.1:p.Tyr385Ter
NM_003193.5:c.1155C>G MANE Select NP_003184.1:p.Tyr385Ter
NM_001079515.3:c.1155C>G NP_001072983.1:p.Tyr385Ter
NM_001287801.2:c.1308C>G NP_001274730.1:p.Tyr436Ter
NM_001287802.2:c.816C>G NP_001274731.1:p.Tyr272Ter