Canonical Allele Identifier: CA344945936

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602224G>C (hg19) ; chr1:g.235438909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438909G>C , CM000663.2:g.235438909G>C	GRCh38
NC_000001.10:g.235602224G>C , CM000663.1:g.235602224G>C	GRCh37
NC_000001.9:g.233668847G>C	NCBI36
NG_009230.1:g.76497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1068G>C	ENSP00000355560.4:p.Gln356His
ENST00000406207.5:c.1257G>C	ENSP00000384571.1:p.Gln419His
ENST00000472011.6:n.1981G>C
ENST00000543662.4:c.1410G>C	ENSP00000439170.1:p.Gln470His
ENST00000642339.1:c.*954G>C	ENSP00000495425.1:n.*954G>C
ENST00000642431.1:c.1834G>C
ENST00000642463.1:c.*1155G>C	ENSP00000495007.1:n.*1155G>C
ENST00000642503.1:c.*1031G>C	ENSP00000494334.1:n.*1031G>C
ENST00000642610.2:c.1257G>C MANE Select	ENSP00000494796.1:p.Gln419His
ENST00000642764.1:n.2088G>C
ENST00000643125.1:c.*272G>C	ENSP00000494102.1:n.*272G>C
ENST00000643142.1:c.*748G>C	ENSP00000494755.1:n.*748G>C
ENST00000643238.1:c.*277G>C	ENSP00000495916.1:n.*277G>C
ENST00000643410.1:c.*547G>C	ENSP00000495030.1:n.*547G>C
ENST00000643487.1:n.1944G>C
ENST00000643524.1:c.*842G>C	ENSP00000494026.1:n.*842G>C
ENST00000643615.1:c.*1116+1435G>C	ENSP00000496103.1:n.*1116+1435G>C
ENST00000643993.1:n.1393G>C
ENST00000643994.1:c.*1257G>C	ENSP00000496322.1:n.*1257G>C
ENST00000644037.1:c.*1467G>C	ENSP00000496408.1:n.*1467G>C
ENST00000644055.1:c.*1882G>C	ENSP00000496307.1:n.*1882G>C
ENST00000644126.1:n.2929G>C
ENST00000644217.1:c.1257G>C	ENSP00000494646.1:p.Gln419His
ENST00000644265.1:c.626G>C
ENST00000644578.1:c.1071G>C	ENSP00000495953.1:p.Gln357His
ENST00000644604.1:c.1257G>C	ENSP00000495961.1:p.Gln419His
ENST00000644680.1:c.*1778G>C	ENSP00000496173.1:n.*1778G>C
ENST00000644838.1:c.*640G>C	ENSP00000495910.1:n.*640G>C
ENST00000644910.1:c.1864G>C
ENST00000645205.1:c.1257G>C	ENSP00000495823.1:p.Gln419His
ENST00000645351.1:c.1257G>C	ENSP00000494319.1:p.Gln419His
ENST00000645551.1:c.*974G>C	ENSP00000495928.1:n.*974G>C
ENST00000645578.1:c.*1031G>C	ENSP00000496495.1:n.*1031G>C
ENST00000645582.1:c.*1087G>C	ENSP00000494980.1:n.*1087G>C
ENST00000645655.1:c.1257G>C	ENSP00000495202.1:p.Gln419His
ENST00000645662.1:c.*716G>C	ENSP00000495964.1:n.*716G>C
ENST00000645836.1:c.*1031G>C	ENSP00000493915.1:n.*1031G>C
ENST00000645899.1:c.1257G>C	ENSP00000496773.1:p.Gln419His
ENST00000645964.1:c.*1123G>C	ENSP00000494208.1:n.*1123G>C
ENST00000646104.1:c.*1725G>C	ENSP00000495475.1:n.*1725G>C
ENST00000646186.1:c.*929G>C	ENSP00000493806.1:n.*929G>C
ENST00000646286.1:c.*1150G>C	ENSP00000494291.1:n.*1150G>C
ENST00000646463.1:c.*1022G>C	ENSP00000494541.1:n.*1022G>C
ENST00000646528.1:c.*1973G>C	ENSP00000496553.1:n.*1973G>C
ENST00000646536.1:c.*547G>C	ENSP00000494801.1:n.*547G>C
ENST00000646624.1:c.1257G>C	ENSP00000494575.1:p.Gln419His
ENST00000646821.1:c.*547G>C	ENSP00000495257.1:n.*547G>C
ENST00000646842.1:n.701G>C
ENST00000646848.1:c.*472G>C	ENSP00000495831.1:n.*472G>C
ENST00000647186.1:c.1257G>C	ENSP00000494775.1:p.Gln419His
ENST00000647233.1:n.2237G>C
ENST00000647322.1:c.848G>C
ENST00000647418.1:c.*1031G>C	ENSP00000493552.1:n.*1031G>C
ENST00000647428.1:c.918G>C	ENSP00000495630.1:p.Gln306His
ENST00000651186.1:c.918G>C	ENSP00000498645.1:p.Gln306His
ENST00000366601.7:c.1257G>C	ENSP00000355560.3:p.Gln419His
ENST00000406207.4:c.1257G>C	ENSP00000384571.1:p.Gln419His
ENST00000472011.5:n.1309G>C
ENST00000543662.3:c.1410G>C	ENSP00000439170.1:p.Gln470His
NM_001079515.2:c.1257G>C	NP_001072983.1:p.Gln419His
NM_001287801.1:c.1410G>C	NP_001274730.1:p.Gln470His
NM_001287802.1:c.918G>C	NP_001274731.1:p.Gln306His
NM_003193.4:c.1257G>C	NP_003184.1:p.Gln419His
NM_003193.5:c.1257G>C MANE Select	NP_003184.1:p.Gln419His
NM_001079515.3:c.1257G>C	NP_001072983.1:p.Gln419His
NM_001287801.2:c.1410G>C	NP_001274730.1:p.Gln470His
NM_001287802.2:c.918G>C	NP_001274731.1:p.Gln306His