Canonical Allele Identifier: CA344945854
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438904T>A , CM000663.2:g.235438904T>A GRCh38
NC_000001.10:g.235602219T>A , CM000663.1:g.235602219T>A GRCh37
NC_000001.9:g.233668842T>A NCBI36
NG_009230.1:g.76492T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1063T>A ENSP00000355560.4:p.Tyr355Asn
ENST00000406207.5:c.1252T>A ENSP00000384571.1:p.Tyr418Asn
ENST00000472011.6:n.1976T>A
ENST00000543662.4:c.1405T>A ENSP00000439170.1:p.Tyr469Asn
ENST00000642339.1:c.*949T>A ENSP00000495425.1:n.*949T>A
ENST00000642431.1:c.1829T>A
ENST00000642463.1:c.*1150T>A ENSP00000495007.1:n.*1150T>A
ENST00000642503.1:c.*1026T>A ENSP00000494334.1:n.*1026T>A
ENST00000642610.2:c.1252T>A MANE Select ENSP00000494796.1:p.Tyr418Asn
ENST00000642764.1:n.2083T>A
ENST00000643125.1:c.*267T>A ENSP00000494102.1:n.*267T>A
ENST00000643142.1:c.*743T>A ENSP00000494755.1:n.*743T>A
ENST00000643238.1:c.*272T>A ENSP00000495916.1:n.*272T>A
ENST00000643410.1:c.*542T>A ENSP00000495030.1:n.*542T>A
ENST00000643487.1:n.1939T>A
ENST00000643524.1:c.*837T>A ENSP00000494026.1:n.*837T>A
ENST00000643615.1:c.*1116+1430T>A ENSP00000496103.1:n.*1116+1430T>A
ENST00000643993.1:n.1388T>A
ENST00000643994.1:c.*1252T>A ENSP00000496322.1:n.*1252T>A
ENST00000644037.1:c.*1462T>A ENSP00000496408.1:n.*1462T>A
ENST00000644055.1:c.*1877T>A ENSP00000496307.1:n.*1877T>A
ENST00000644126.1:n.2924T>A
ENST00000644217.1:c.1252T>A ENSP00000494646.1:p.Tyr418Asn
ENST00000644265.1:c.621T>A
ENST00000644578.1:c.1066T>A ENSP00000495953.1:p.Tyr356Asn
ENST00000644604.1:c.1252T>A ENSP00000495961.1:p.Tyr418Asn
ENST00000644680.1:c.*1773T>A ENSP00000496173.1:n.*1773T>A
ENST00000644838.1:c.*635T>A ENSP00000495910.1:n.*635T>A
ENST00000644910.1:c.1859T>A
ENST00000645205.1:c.1252T>A ENSP00000495823.1:p.Tyr418Asn
ENST00000645351.1:c.1252T>A ENSP00000494319.1:p.Tyr418Asn
ENST00000645551.1:c.*969T>A ENSP00000495928.1:n.*969T>A
ENST00000645578.1:c.*1026T>A ENSP00000496495.1:n.*1026T>A
ENST00000645582.1:c.*1082T>A ENSP00000494980.1:n.*1082T>A
ENST00000645655.1:c.1252T>A ENSP00000495202.1:p.Tyr418Asn
ENST00000645662.1:c.*711T>A ENSP00000495964.1:n.*711T>A
ENST00000645836.1:c.*1026T>A ENSP00000493915.1:n.*1026T>A
ENST00000645899.1:c.1252T>A ENSP00000496773.1:p.Tyr418Asn
ENST00000645964.1:c.*1118T>A ENSP00000494208.1:n.*1118T>A
ENST00000646104.1:c.*1720T>A ENSP00000495475.1:n.*1720T>A
ENST00000646186.1:c.*924T>A ENSP00000493806.1:n.*924T>A
ENST00000646286.1:c.*1145T>A ENSP00000494291.1:n.*1145T>A
ENST00000646463.1:c.*1017T>A ENSP00000494541.1:n.*1017T>A
ENST00000646528.1:c.*1968T>A ENSP00000496553.1:n.*1968T>A
ENST00000646536.1:c.*542T>A ENSP00000494801.1:n.*542T>A
ENST00000646624.1:c.1252T>A ENSP00000494575.1:p.Tyr418Asn
ENST00000646821.1:c.*542T>A ENSP00000495257.1:n.*542T>A
ENST00000646842.1:n.696T>A
ENST00000646848.1:c.*467T>A ENSP00000495831.1:n.*467T>A
ENST00000647186.1:c.1252T>A ENSP00000494775.1:p.Tyr418Asn
ENST00000647233.1:n.2232T>A
ENST00000647322.1:c.843T>A
ENST00000647418.1:c.*1026T>A ENSP00000493552.1:n.*1026T>A
ENST00000647428.1:c.913T>A ENSP00000495630.1:p.Tyr305Asn
ENST00000651186.1:c.913T>A ENSP00000498645.1:p.Tyr305Asn
ENST00000366601.7:c.1252T>A ENSP00000355560.3:p.Tyr418Asn
ENST00000406207.4:c.1252T>A ENSP00000384571.1:p.Tyr418Asn
ENST00000472011.5:n.1304T>A
ENST00000543662.3:c.1405T>A ENSP00000439170.1:p.Tyr469Asn
NM_001079515.2:c.1252T>A NP_001072983.1:p.Tyr418Asn
NM_001287801.1:c.1405T>A NP_001274730.1:p.Tyr469Asn
NM_001287802.1:c.913T>A NP_001274731.1:p.Tyr305Asn
NM_003193.4:c.1252T>A NP_003184.1:p.Tyr418Asn
NM_003193.5:c.1252T>A MANE Select NP_003184.1:p.Tyr418Asn
NM_001079515.3:c.1252T>A NP_001072983.1:p.Tyr418Asn
NM_001287801.2:c.1405T>A NP_001274730.1:p.Tyr469Asn
NM_001287802.2:c.913T>A NP_001274731.1:p.Tyr305Asn