Canonical Allele Identifier: CA344944989
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438820G>A , CM000663.2:g.235438820G>A GRCh38
NC_000001.10:g.235602135G>A , CM000663.1:g.235602135G>A GRCh37
NC_000001.9:g.233668758G>A NCBI36
NG_009230.1:g.76408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.979G>A ENSP00000355560.4:p.Gly327Arg
ENST00000406207.5:c.1168G>A ENSP00000384571.1:p.Gly390Arg
ENST00000472011.6:n.1892G>A
ENST00000543662.4:c.1321G>A ENSP00000439170.1:p.Gly441Arg
ENST00000642339.1:c.*865G>A ENSP00000495425.1:n.*865G>A
ENST00000642431.1:c.1745G>A
ENST00000642463.1:c.*1066G>A ENSP00000495007.1:n.*1066G>A
ENST00000642503.1:c.*942G>A ENSP00000494334.1:n.*942G>A
ENST00000642610.2:c.1168G>A MANE Select ENSP00000494796.1:p.Gly390Arg
ENST00000642764.1:n.1999G>A
ENST00000643125.1:c.*183G>A ENSP00000494102.1:n.*183G>A
ENST00000643142.1:c.*659G>A ENSP00000494755.1:n.*659G>A
ENST00000643238.1:c.*188G>A ENSP00000495916.1:n.*188G>A
ENST00000643410.1:c.*458G>A ENSP00000495030.1:n.*458G>A
ENST00000643487.1:n.1855G>A
ENST00000643524.1:c.*753G>A ENSP00000494026.1:n.*753G>A
ENST00000643615.1:c.*1116+1346G>A ENSP00000496103.1:n.*1116+1346G>A
ENST00000643993.1:n.1304G>A
ENST00000643994.1:c.*1168G>A ENSP00000496322.1:n.*1168G>A
ENST00000644037.1:c.*1378G>A ENSP00000496408.1:n.*1378G>A
ENST00000644055.1:c.*1793G>A ENSP00000496307.1:n.*1793G>A
ENST00000644126.1:n.2840G>A
ENST00000644217.1:c.1168G>A ENSP00000494646.1:p.Gly390Arg
ENST00000644265.1:c.537G>A
ENST00000644578.1:c.982G>A ENSP00000495953.1:p.Gly328Arg
ENST00000644604.1:c.1168G>A ENSP00000495961.1:p.Gly390Arg
ENST00000644680.1:c.*1689G>A ENSP00000496173.1:n.*1689G>A
ENST00000644838.1:c.*551G>A ENSP00000495910.1:n.*551G>A
ENST00000644910.1:c.1775G>A
ENST00000645205.1:c.1168G>A ENSP00000495823.1:p.Gly390Arg
ENST00000645351.1:c.1168G>A ENSP00000494319.1:p.Gly390Arg
ENST00000645551.1:c.*885G>A ENSP00000495928.1:n.*885G>A
ENST00000645578.1:c.*942G>A ENSP00000496495.1:n.*942G>A
ENST00000645582.1:c.*998G>A ENSP00000494980.1:n.*998G>A
ENST00000645655.1:c.1168G>A ENSP00000495202.1:p.Gly390Arg
ENST00000645662.1:c.*627G>A ENSP00000495964.1:n.*627G>A
ENST00000645836.1:c.*942G>A ENSP00000493915.1:n.*942G>A
ENST00000645899.1:c.1168G>A ENSP00000496773.1:p.Gly390Arg
ENST00000645964.1:c.*1034G>A ENSP00000494208.1:n.*1034G>A
ENST00000646104.1:c.*1636G>A ENSP00000495475.1:n.*1636G>A
ENST00000646186.1:c.*840G>A ENSP00000493806.1:n.*840G>A
ENST00000646286.1:c.*1061G>A ENSP00000494291.1:n.*1061G>A
ENST00000646463.1:c.*933G>A ENSP00000494541.1:n.*933G>A
ENST00000646528.1:c.*1884G>A ENSP00000496553.1:n.*1884G>A
ENST00000646536.1:c.*458G>A ENSP00000494801.1:n.*458G>A
ENST00000646624.1:c.1168G>A ENSP00000494575.1:p.Gly390Arg
ENST00000646821.1:c.*458G>A ENSP00000495257.1:n.*458G>A
ENST00000646842.1:n.612G>A
ENST00000646848.1:c.*383G>A ENSP00000495831.1:n.*383G>A
ENST00000647186.1:c.1168G>A ENSP00000494775.1:p.Gly390Arg
ENST00000647233.1:n.2148G>A
ENST00000647322.1:c.759G>A
ENST00000647418.1:c.*942G>A ENSP00000493552.1:n.*942G>A
ENST00000647428.1:c.829G>A ENSP00000495630.1:p.Gly277Arg
ENST00000651186.1:c.829G>A ENSP00000498645.1:p.Gly277Arg
ENST00000366601.7:c.1168G>A ENSP00000355560.3:p.Gly390Arg
ENST00000406207.4:c.1168G>A ENSP00000384571.1:p.Gly390Arg
ENST00000472011.5:n.1220G>A
ENST00000543662.3:c.1321G>A ENSP00000439170.1:p.Gly441Arg
NM_001079515.2:c.1168G>A NP_001072983.1:p.Gly390Arg
NM_001287801.1:c.1321G>A NP_001274730.1:p.Gly441Arg
NM_001287802.1:c.829G>A NP_001274731.1:p.Gly277Arg
NM_003193.4:c.1168G>A NP_003184.1:p.Gly390Arg
NM_003193.5:c.1168G>A MANE Select NP_003184.1:p.Gly390Arg
NM_001079515.3:c.1168G>A NP_001072983.1:p.Gly390Arg
NM_001287801.2:c.1321G>A NP_001274730.1:p.Gly441Arg
NM_001287802.2:c.829G>A NP_001274731.1:p.Gly277Arg