Canonical Allele Identifier: CA344945499

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602187T>G (hg19) ; chr1:g.235438872T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438872T>G , CM000663.2:g.235438872T>G	GRCh38
NC_000001.10:g.235602187T>G , CM000663.1:g.235602187T>G	GRCh37
NC_000001.9:g.233668810T>G	NCBI36
NG_009230.1:g.76460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1031T>G	ENSP00000355560.4:p.Leu344Arg
ENST00000406207.5:c.1220T>G	ENSP00000384571.1:p.Leu407Arg
ENST00000472011.6:n.1944T>G
ENST00000543662.4:c.1373T>G	ENSP00000439170.1:p.Leu458Arg
ENST00000642339.1:c.*917T>G	ENSP00000495425.1:n.*917T>G
ENST00000642431.1:c.1797T>G
ENST00000642463.1:c.*1118T>G	ENSP00000495007.1:n.*1118T>G
ENST00000642503.1:c.*994T>G	ENSP00000494334.1:n.*994T>G
ENST00000642610.2:c.1220T>G MANE Select	ENSP00000494796.1:p.Leu407Arg
ENST00000642764.1:n.2051T>G
ENST00000643125.1:c.*235T>G	ENSP00000494102.1:n.*235T>G
ENST00000643142.1:c.*711T>G	ENSP00000494755.1:n.*711T>G
ENST00000643238.1:c.*240T>G	ENSP00000495916.1:n.*240T>G
ENST00000643410.1:c.*510T>G	ENSP00000495030.1:n.*510T>G
ENST00000643487.1:n.1907T>G
ENST00000643524.1:c.*805T>G	ENSP00000494026.1:n.*805T>G
ENST00000643615.1:c.*1116+1398T>G	ENSP00000496103.1:n.*1116+1398T>G
ENST00000643993.1:n.1356T>G
ENST00000643994.1:c.*1220T>G	ENSP00000496322.1:n.*1220T>G
ENST00000644037.1:c.*1430T>G	ENSP00000496408.1:n.*1430T>G
ENST00000644055.1:c.*1845T>G	ENSP00000496307.1:n.*1845T>G
ENST00000644126.1:n.2892T>G
ENST00000644217.1:c.1220T>G	ENSP00000494646.1:p.Leu407Arg
ENST00000644265.1:c.589T>G
ENST00000644578.1:c.1034T>G	ENSP00000495953.1:p.Leu345Arg
ENST00000644604.1:c.1220T>G	ENSP00000495961.1:p.Leu407Arg
ENST00000644680.1:c.*1741T>G	ENSP00000496173.1:n.*1741T>G
ENST00000644838.1:c.*603T>G	ENSP00000495910.1:n.*603T>G
ENST00000644910.1:c.1827T>G
ENST00000645205.1:c.1220T>G	ENSP00000495823.1:p.Leu407Arg
ENST00000645351.1:c.1220T>G	ENSP00000494319.1:p.Leu407Arg
ENST00000645551.1:c.*937T>G	ENSP00000495928.1:n.*937T>G
ENST00000645578.1:c.*994T>G	ENSP00000496495.1:n.*994T>G
ENST00000645582.1:c.*1050T>G	ENSP00000494980.1:n.*1050T>G
ENST00000645655.1:c.1220T>G	ENSP00000495202.1:p.Leu407Arg
ENST00000645662.1:c.*679T>G	ENSP00000495964.1:n.*679T>G
ENST00000645836.1:c.*994T>G	ENSP00000493915.1:n.*994T>G
ENST00000645899.1:c.1220T>G	ENSP00000496773.1:p.Leu407Arg
ENST00000645964.1:c.*1086T>G	ENSP00000494208.1:n.*1086T>G
ENST00000646104.1:c.*1688T>G	ENSP00000495475.1:n.*1688T>G
ENST00000646186.1:c.*892T>G	ENSP00000493806.1:n.*892T>G
ENST00000646286.1:c.*1113T>G	ENSP00000494291.1:n.*1113T>G
ENST00000646463.1:c.*985T>G	ENSP00000494541.1:n.*985T>G
ENST00000646528.1:c.*1936T>G	ENSP00000496553.1:n.*1936T>G
ENST00000646536.1:c.*510T>G	ENSP00000494801.1:n.*510T>G
ENST00000646624.1:c.1220T>G	ENSP00000494575.1:p.Leu407Arg
ENST00000646821.1:c.*510T>G	ENSP00000495257.1:n.*510T>G
ENST00000646842.1:n.664T>G
ENST00000646848.1:c.*435T>G	ENSP00000495831.1:n.*435T>G
ENST00000647186.1:c.1220T>G	ENSP00000494775.1:p.Leu407Arg
ENST00000647233.1:n.2200T>G
ENST00000647322.1:c.811T>G
ENST00000647418.1:c.*994T>G	ENSP00000493552.1:n.*994T>G
ENST00000647428.1:c.881T>G	ENSP00000495630.1:p.Leu294Arg
ENST00000651186.1:c.881T>G	ENSP00000498645.1:p.Leu294Arg
ENST00000366601.7:c.1220T>G	ENSP00000355560.3:p.Leu407Arg
ENST00000406207.4:c.1220T>G	ENSP00000384571.1:p.Leu407Arg
ENST00000472011.5:n.1272T>G
ENST00000543662.3:c.1373T>G	ENSP00000439170.1:p.Leu458Arg
NM_001079515.2:c.1220T>G	NP_001072983.1:p.Leu407Arg
NM_001287801.1:c.1373T>G	NP_001274730.1:p.Leu458Arg
NM_001287802.1:c.881T>G	NP_001274731.1:p.Leu294Arg
NM_003193.4:c.1220T>G	NP_003184.1:p.Leu407Arg
NM_003193.5:c.1220T>G MANE Select	NP_003184.1:p.Leu407Arg
NM_001079515.3:c.1220T>G	NP_001072983.1:p.Leu407Arg
NM_001287801.2:c.1373T>G	NP_001274730.1:p.Leu458Arg
NM_001287802.2:c.881T>G	NP_001274731.1:p.Leu294Arg