Canonical Allele Identifier: CA2486499874
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438808C= , CM000663.2:g.235438808C= GRCh38
NC_000001.10:g.235602123C= , CM000663.1:g.235602123C= GRCh37
NC_000001.9:g.233668746C= NCBI36
NG_009230.1:g.76396C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.967C= ENSP00000355560.4:p.Arg323=
ENST00000406207.5:c.1156C= ENSP00000384571.1:p.Arg386=
ENST00000472011.6:n.1880C=
ENST00000543662.4:c.1309C= ENSP00000439170.1:p.Arg437=
ENST00000642339.1:c.*853C= ENSP00000495425.1:n.*853C=
ENST00000642431.1:c.1733C=
ENST00000642463.1:c.*1054C= ENSP00000495007.1:n.*1054C=
ENST00000642503.1:c.*930C= ENSP00000494334.1:n.*930C=
ENST00000642610.2:c.1156C= MANE Select ENSP00000494796.1:p.Arg386=
ENST00000642764.1:n.1987C=
ENST00000643125.1:c.*171C= ENSP00000494102.1:n.*171C=
ENST00000643142.1:c.*647C= ENSP00000494755.1:n.*647C=
ENST00000643238.1:c.*176C= ENSP00000495916.1:n.*176C=
ENST00000643410.1:c.*446C= ENSP00000495030.1:n.*446C=
ENST00000643487.1:n.1843C=
ENST00000643524.1:c.*741C= ENSP00000494026.1:n.*741C=
ENST00000643615.1:c.*1116+1334C= ENSP00000496103.1:n.*1116+1334C=
ENST00000643993.1:n.1292C=
ENST00000643994.1:c.*1156C= ENSP00000496322.1:n.*1156C=
ENST00000644037.1:c.*1366C= ENSP00000496408.1:n.*1366C=
ENST00000644055.1:c.*1781C= ENSP00000496307.1:n.*1781C=
ENST00000644126.1:n.2828C=
ENST00000644217.1:c.1156C= ENSP00000494646.1:p.Arg386=
ENST00000644265.1:c.525C=
ENST00000644578.1:c.970C= ENSP00000495953.1:p.Arg324=
ENST00000644604.1:c.1156C= ENSP00000495961.1:p.Arg386=
ENST00000644680.1:c.*1677C= ENSP00000496173.1:n.*1677C=
ENST00000644838.1:c.*539C= ENSP00000495910.1:n.*539C=
ENST00000644910.1:c.1763C=
ENST00000645205.1:c.1156C= ENSP00000495823.1:p.Arg386=
ENST00000645351.1:c.1156C= ENSP00000494319.1:p.Arg386=
ENST00000645551.1:c.*873C= ENSP00000495928.1:n.*873C=
ENST00000645578.1:c.*930C= ENSP00000496495.1:n.*930C=
ENST00000645582.1:c.*986C= ENSP00000494980.1:n.*986C=
ENST00000645655.1:c.1156C= ENSP00000495202.1:p.Arg386=
ENST00000645662.1:c.*615C= ENSP00000495964.1:n.*615C=
ENST00000645836.1:c.*930C= ENSP00000493915.1:n.*930C=
ENST00000645899.1:c.1156C= ENSP00000496773.1:p.Arg386=
ENST00000645964.1:c.*1022C= ENSP00000494208.1:n.*1022C=
ENST00000646104.1:c.*1624C= ENSP00000495475.1:n.*1624C=
ENST00000646186.1:c.*828C= ENSP00000493806.1:n.*828C=
ENST00000646286.1:c.*1049C= ENSP00000494291.1:n.*1049C=
ENST00000646463.1:c.*921C= ENSP00000494541.1:n.*921C=
ENST00000646528.1:c.*1872C= ENSP00000496553.1:n.*1872C=
ENST00000646536.1:c.*446C= ENSP00000494801.1:n.*446C=
ENST00000646624.1:c.1156C= ENSP00000494575.1:p.Arg386=
ENST00000646821.1:c.*446C= ENSP00000495257.1:n.*446C=
ENST00000646842.1:n.600C=
ENST00000646848.1:c.*371C= ENSP00000495831.1:n.*371C=
ENST00000647186.1:c.1156C= ENSP00000494775.1:p.Arg386=
ENST00000647233.1:n.2136C=
ENST00000647322.1:c.747C=
ENST00000647418.1:c.*930C= ENSP00000493552.1:n.*930C=
ENST00000647428.1:c.817C= ENSP00000495630.1:p.Arg273=
ENST00000651186.1:c.817C= ENSP00000498645.1:p.Arg273=
ENST00000366601.7:c.1156C= ENSP00000355560.3:p.Arg386=
ENST00000406207.4:c.1156C= ENSP00000384571.1:p.Arg386=
ENST00000472011.5:n.1208C=
ENST00000543662.3:c.1309C= ENSP00000439170.1:p.Arg437=
NM_001079515.2:c.1156C= NP_001072983.1:p.Arg386=
NM_001287801.1:c.1309C= NP_001274730.1:p.Arg437=
NM_001287802.1:c.817C= NP_001274731.1:p.Arg273=
NM_003193.4:c.1156C= NP_003184.1:p.Arg386=
NM_003193.5:c.1156C= MANE Select NP_003184.1:p.Arg386=
NM_001079515.3:c.1156C= NP_001072983.1:p.Arg386=
NM_001287801.2:c.1309C= NP_001274730.1:p.Arg437=
NM_001287802.2:c.817C= NP_001274731.1:p.Arg273=