Canonical Allele Identifier: CA344944569
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438773T>C , CM000663.2:g.235438773T>C GRCh38
NC_000001.10:g.235602088T>C , CM000663.1:g.235602088T>C GRCh37
NC_000001.9:g.233668711T>C NCBI36
NG_009230.1:g.76361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.932T>C ENSP00000355560.4:p.Leu311Pro
ENST00000406207.5:c.1121T>C ENSP00000384571.1:p.Leu374Pro
ENST00000472011.6:n.1845T>C
ENST00000543662.4:c.1274T>C ENSP00000439170.1:p.Leu425Pro
ENST00000642339.1:c.*818T>C ENSP00000495425.1:n.*818T>C
ENST00000642431.1:c.1698T>C
ENST00000642463.1:c.*1019T>C ENSP00000495007.1:n.*1019T>C
ENST00000642503.1:c.*895T>C ENSP00000494334.1:n.*895T>C
ENST00000642610.2:c.1121T>C MANE Select ENSP00000494796.1:p.Leu374Pro
ENST00000642764.1:n.1952T>C
ENST00000643125.1:c.*136T>C ENSP00000494102.1:n.*136T>C
ENST00000643142.1:c.*612T>C ENSP00000494755.1:n.*612T>C
ENST00000643238.1:c.*141T>C ENSP00000495916.1:n.*141T>C
ENST00000643410.1:c.*411T>C ENSP00000495030.1:n.*411T>C
ENST00000643487.1:n.1808T>C
ENST00000643524.1:c.*706T>C ENSP00000494026.1:n.*706T>C
ENST00000643615.1:c.*1116+1299T>C ENSP00000496103.1:n.*1116+1299T>C
ENST00000643993.1:n.1257T>C
ENST00000643994.1:c.*1121T>C ENSP00000496322.1:n.*1121T>C
ENST00000644037.1:c.*1331T>C ENSP00000496408.1:n.*1331T>C
ENST00000644055.1:c.*1746T>C ENSP00000496307.1:n.*1746T>C
ENST00000644126.1:n.2793T>C
ENST00000644217.1:c.1121T>C ENSP00000494646.1:p.Leu374Pro
ENST00000644265.1:c.490T>C
ENST00000644578.1:c.935T>C ENSP00000495953.1:p.Leu312Pro
ENST00000644604.1:c.1121T>C ENSP00000495961.1:p.Leu374Pro
ENST00000644680.1:c.*1642T>C ENSP00000496173.1:n.*1642T>C
ENST00000644838.1:c.*504T>C ENSP00000495910.1:n.*504T>C
ENST00000644910.1:c.1728T>C
ENST00000645205.1:c.1121T>C ENSP00000495823.1:p.Leu374Pro
ENST00000645351.1:c.1121T>C ENSP00000494319.1:p.Leu374Pro
ENST00000645551.1:c.*838T>C ENSP00000495928.1:n.*838T>C
ENST00000645578.1:c.*895T>C ENSP00000496495.1:n.*895T>C
ENST00000645582.1:c.*951T>C ENSP00000494980.1:n.*951T>C
ENST00000645655.1:c.1121T>C ENSP00000495202.1:p.Leu374Pro
ENST00000645662.1:c.*580T>C ENSP00000495964.1:n.*580T>C
ENST00000645836.1:c.*895T>C ENSP00000493915.1:n.*895T>C
ENST00000645899.1:c.1121T>C ENSP00000496773.1:p.Leu374Pro
ENST00000645964.1:c.*987T>C ENSP00000494208.1:n.*987T>C
ENST00000646104.1:c.*1589T>C ENSP00000495475.1:n.*1589T>C
ENST00000646186.1:c.*793T>C ENSP00000493806.1:n.*793T>C
ENST00000646286.1:c.*1014T>C ENSP00000494291.1:n.*1014T>C
ENST00000646463.1:c.*886T>C ENSP00000494541.1:n.*886T>C
ENST00000646528.1:c.*1837T>C ENSP00000496553.1:n.*1837T>C
ENST00000646536.1:c.*411T>C ENSP00000494801.1:n.*411T>C
ENST00000646624.1:c.1121T>C ENSP00000494575.1:p.Leu374Pro
ENST00000646821.1:c.*411T>C ENSP00000495257.1:n.*411T>C
ENST00000646842.1:n.565T>C
ENST00000646848.1:c.*336T>C ENSP00000495831.1:n.*336T>C
ENST00000647186.1:c.1121T>C ENSP00000494775.1:p.Leu374Pro
ENST00000647233.1:n.2101T>C
ENST00000647322.1:c.712T>C
ENST00000647418.1:c.*895T>C ENSP00000493552.1:n.*895T>C
ENST00000647428.1:c.782T>C ENSP00000495630.1:p.Leu261Pro
ENST00000651186.1:c.782T>C ENSP00000498645.1:p.Leu261Pro
ENST00000366601.7:c.1121T>C ENSP00000355560.3:p.Leu374Pro
ENST00000406207.4:c.1121T>C ENSP00000384571.1:p.Leu374Pro
ENST00000472011.5:n.1173T>C
ENST00000543662.3:c.1274T>C ENSP00000439170.1:p.Leu425Pro
NM_001079515.2:c.1121T>C NP_001072983.1:p.Leu374Pro
NM_001287801.1:c.1274T>C NP_001274730.1:p.Leu425Pro
NM_001287802.1:c.782T>C NP_001274731.1:p.Leu261Pro
NM_003193.4:c.1121T>C NP_003184.1:p.Leu374Pro
NM_003193.5:c.1121T>C MANE Select NP_003184.1:p.Leu374Pro
NM_001079515.3:c.1121T>C NP_001072983.1:p.Leu374Pro
NM_001287801.2:c.1274T>C NP_001274730.1:p.Leu425Pro
NM_001287802.2:c.782T>C NP_001274731.1:p.Leu261Pro