Canonical Allele Identifier: CA344945959

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602227C>G (hg19) ; chr1:g.235438912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438912C>G , CM000663.2:g.235438912C>G	GRCh38
NC_000001.10:g.235602227C>G , CM000663.1:g.235602227C>G	GRCh37
NC_000001.9:g.233668850C>G	NCBI36
NG_009230.1:g.76500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1071C>G	ENSP00000355560.4:p.Phe357Leu
ENST00000406207.5:c.1260C>G	ENSP00000384571.1:p.Phe420Leu
ENST00000472011.6:n.1984C>G
ENST00000543662.4:c.1413C>G	ENSP00000439170.1:p.Phe471Leu
ENST00000642339.1:c.*957C>G	ENSP00000495425.1:n.*957C>G
ENST00000642431.1:c.1837C>G
ENST00000642463.1:c.*1158C>G	ENSP00000495007.1:n.*1158C>G
ENST00000642503.1:c.*1034C>G	ENSP00000494334.1:n.*1034C>G
ENST00000642610.2:c.1260C>G MANE Select	ENSP00000494796.1:p.Phe420Leu
ENST00000642764.1:n.2091C>G
ENST00000643125.1:c.*275C>G	ENSP00000494102.1:n.*275C>G
ENST00000643142.1:c.*751C>G	ENSP00000494755.1:n.*751C>G
ENST00000643238.1:c.*280C>G	ENSP00000495916.1:n.*280C>G
ENST00000643410.1:c.*550C>G	ENSP00000495030.1:n.*550C>G
ENST00000643487.1:n.1947C>G
ENST00000643524.1:c.*845C>G	ENSP00000494026.1:n.*845C>G
ENST00000643615.1:c.*1116+1438C>G	ENSP00000496103.1:n.*1116+1438C>G
ENST00000643993.1:n.1396C>G
ENST00000643994.1:c.*1260C>G	ENSP00000496322.1:n.*1260C>G
ENST00000644037.1:c.*1470C>G	ENSP00000496408.1:n.*1470C>G
ENST00000644055.1:c.*1885C>G	ENSP00000496307.1:n.*1885C>G
ENST00000644126.1:n.2932C>G
ENST00000644217.1:c.1260C>G	ENSP00000494646.1:p.Phe420Leu
ENST00000644265.1:c.629C>G
ENST00000644578.1:c.1074C>G	ENSP00000495953.1:p.Phe358Leu
ENST00000644604.1:c.1260C>G	ENSP00000495961.1:p.Phe420Leu
ENST00000644680.1:c.*1781C>G	ENSP00000496173.1:n.*1781C>G
ENST00000644838.1:c.*643C>G	ENSP00000495910.1:n.*643C>G
ENST00000644910.1:c.1867C>G
ENST00000645205.1:c.1260C>G	ENSP00000495823.1:p.Phe420Leu
ENST00000645351.1:c.1260C>G	ENSP00000494319.1:p.Phe420Leu
ENST00000645551.1:c.*977C>G	ENSP00000495928.1:n.*977C>G
ENST00000645578.1:c.*1034C>G	ENSP00000496495.1:n.*1034C>G
ENST00000645582.1:c.*1090C>G	ENSP00000494980.1:n.*1090C>G
ENST00000645655.1:c.1260C>G	ENSP00000495202.1:p.Phe420Leu
ENST00000645836.1:c.*1034C>G	ENSP00000493915.1:n.*1034C>G
ENST00000645899.1:c.1260C>G	ENSP00000496773.1:p.Phe420Leu
ENST00000645964.1:c.*1126C>G	ENSP00000494208.1:n.*1126C>G
ENST00000646104.1:c.*1728C>G	ENSP00000495475.1:n.*1728C>G
ENST00000646186.1:c.*932C>G	ENSP00000493806.1:n.*932C>G
ENST00000646286.1:c.*1153C>G	ENSP00000494291.1:n.*1153C>G
ENST00000646463.1:c.*1025C>G	ENSP00000494541.1:n.*1025C>G
ENST00000646528.1:c.*1976C>G	ENSP00000496553.1:n.*1976C>G
ENST00000646536.1:c.*550C>G	ENSP00000494801.1:n.*550C>G
ENST00000646624.1:c.1260C>G	ENSP00000494575.1:p.Phe420Leu
ENST00000646821.1:c.*550C>G	ENSP00000495257.1:n.*550C>G
ENST00000646842.1:n.704C>G
ENST00000646848.1:c.*475C>G	ENSP00000495831.1:n.*475C>G
ENST00000647186.1:c.1260C>G	ENSP00000494775.1:p.Phe420Leu
ENST00000647233.1:n.2240C>G
ENST00000647322.1:c.851C>G
ENST00000647418.1:c.*1034C>G	ENSP00000493552.1:n.*1034C>G
ENST00000647428.1:c.921C>G	ENSP00000495630.1:p.Phe307Leu
ENST00000651186.1:c.921C>G	ENSP00000498645.1:p.Phe307Leu
ENST00000366601.7:c.1260C>G	ENSP00000355560.3:p.Phe420Leu
ENST00000406207.4:c.1260C>G	ENSP00000384571.1:p.Phe420Leu
ENST00000472011.5:n.1312C>G
ENST00000543662.3:c.1413C>G	ENSP00000439170.1:p.Phe471Leu
NM_001079515.2:c.1260C>G	NP_001072983.1:p.Phe420Leu
NM_001287801.1:c.1413C>G	NP_001274730.1:p.Phe471Leu
NM_001287802.1:c.921C>G	NP_001274731.1:p.Phe307Leu
NM_003193.4:c.1260C>G	NP_003184.1:p.Phe420Leu
NM_003193.5:c.1260C>G MANE Select	NP_003184.1:p.Phe420Leu
NM_001079515.3:c.1260C>G	NP_001072983.1:p.Phe420Leu
NM_001287801.2:c.1413C>G	NP_001274730.1:p.Phe471Leu
NM_001287802.2:c.921C>G	NP_001274731.1:p.Phe307Leu