Canonical Allele Identifier: CA344945396

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602177A>C (hg19) ; chr1:g.235438862A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438862A>C , CM000663.2:g.235438862A>C	GRCh38
NC_000001.10:g.235602177A>C , CM000663.1:g.235602177A>C	GRCh37
NC_000001.9:g.233668800A>C	NCBI36
NG_009230.1:g.76450A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1021A>C	ENSP00000355560.4:p.Lys341Gln
ENST00000406207.5:c.1210A>C	ENSP00000384571.1:p.Lys404Gln
ENST00000472011.6:n.1934A>C
ENST00000543662.4:c.1363A>C	ENSP00000439170.1:p.Lys455Gln
ENST00000642339.1:c.*907A>C	ENSP00000495425.1:n.*907A>C
ENST00000642431.1:c.1787A>C
ENST00000642463.1:c.*1108A>C	ENSP00000495007.1:n.*1108A>C
ENST00000642503.1:c.*984A>C	ENSP00000494334.1:n.*984A>C
ENST00000642610.2:c.1210A>C MANE Select	ENSP00000494796.1:p.Lys404Gln
ENST00000642764.1:n.2041A>C
ENST00000643125.1:c.*225A>C	ENSP00000494102.1:n.*225A>C
ENST00000643142.1:c.*701A>C	ENSP00000494755.1:n.*701A>C
ENST00000643238.1:c.*230A>C	ENSP00000495916.1:n.*230A>C
ENST00000643410.1:c.*500A>C	ENSP00000495030.1:n.*500A>C
ENST00000643487.1:n.1897A>C
ENST00000643524.1:c.*795A>C	ENSP00000494026.1:n.*795A>C
ENST00000643615.1:c.*1116+1388A>C	ENSP00000496103.1:n.*1116+1388A>C
ENST00000643993.1:n.1346A>C
ENST00000643994.1:c.*1210A>C	ENSP00000496322.1:n.*1210A>C
ENST00000644037.1:c.*1420A>C	ENSP00000496408.1:n.*1420A>C
ENST00000644055.1:c.*1835A>C	ENSP00000496307.1:n.*1835A>C
ENST00000644126.1:n.2882A>C
ENST00000644217.1:c.1210A>C	ENSP00000494646.1:p.Lys404Gln
ENST00000644265.1:c.579A>C
ENST00000644578.1:c.1024A>C	ENSP00000495953.1:p.Lys342Gln
ENST00000644604.1:c.1210A>C	ENSP00000495961.1:p.Lys404Gln
ENST00000644680.1:c.*1731A>C	ENSP00000496173.1:n.*1731A>C
ENST00000644838.1:c.*593A>C	ENSP00000495910.1:n.*593A>C
ENST00000644910.1:c.1817A>C
ENST00000645205.1:c.1210A>C	ENSP00000495823.1:p.Lys404Gln
ENST00000645351.1:c.1210A>C	ENSP00000494319.1:p.Lys404Gln
ENST00000645551.1:c.*927A>C	ENSP00000495928.1:n.*927A>C
ENST00000645578.1:c.*984A>C	ENSP00000496495.1:n.*984A>C
ENST00000645582.1:c.*1040A>C	ENSP00000494980.1:n.*1040A>C
ENST00000645655.1:c.1210A>C	ENSP00000495202.1:p.Lys404Gln
ENST00000645662.1:c.*669A>C	ENSP00000495964.1:n.*669A>C
ENST00000645836.1:c.*984A>C	ENSP00000493915.1:n.*984A>C
ENST00000645899.1:c.1210A>C	ENSP00000496773.1:p.Lys404Gln
ENST00000645964.1:c.*1076A>C	ENSP00000494208.1:n.*1076A>C
ENST00000646104.1:c.*1678A>C	ENSP00000495475.1:n.*1678A>C
ENST00000646186.1:c.*882A>C	ENSP00000493806.1:n.*882A>C
ENST00000646286.1:c.*1103A>C	ENSP00000494291.1:n.*1103A>C
ENST00000646463.1:c.*975A>C	ENSP00000494541.1:n.*975A>C
ENST00000646528.1:c.*1926A>C	ENSP00000496553.1:n.*1926A>C
ENST00000646536.1:c.*500A>C	ENSP00000494801.1:n.*500A>C
ENST00000646624.1:c.1210A>C	ENSP00000494575.1:p.Lys404Gln
ENST00000646821.1:c.*500A>C	ENSP00000495257.1:n.*500A>C
ENST00000646842.1:n.654A>C
ENST00000646848.1:c.*425A>C	ENSP00000495831.1:n.*425A>C
ENST00000647186.1:c.1210A>C	ENSP00000494775.1:p.Lys404Gln
ENST00000647233.1:n.2190A>C
ENST00000647322.1:c.801A>C
ENST00000647418.1:c.*984A>C	ENSP00000493552.1:n.*984A>C
ENST00000647428.1:c.871A>C	ENSP00000495630.1:p.Lys291Gln
ENST00000651186.1:c.871A>C	ENSP00000498645.1:p.Lys291Gln
ENST00000366601.7:c.1210A>C	ENSP00000355560.3:p.Lys404Gln
ENST00000406207.4:c.1210A>C	ENSP00000384571.1:p.Lys404Gln
ENST00000472011.5:n.1262A>C
ENST00000543662.3:c.1363A>C	ENSP00000439170.1:p.Lys455Gln
NM_001079515.2:c.1210A>C	NP_001072983.1:p.Lys404Gln
NM_001287801.1:c.1363A>C	NP_001274730.1:p.Lys455Gln
NM_001287802.1:c.871A>C	NP_001274731.1:p.Lys291Gln
NM_003193.4:c.1210A>C	NP_003184.1:p.Lys404Gln
NM_003193.5:c.1210A>C MANE Select	NP_003184.1:p.Lys404Gln
NM_001079515.3:c.1210A>C	NP_001072983.1:p.Lys404Gln
NM_001287801.2:c.1363A>C	NP_001274730.1:p.Lys455Gln
NM_001287802.2:c.871A>C	NP_001274731.1:p.Lys291Gln