Canonical Allele Identifier: CA344944629

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602095G>T (hg19) ; chr1:g.235438780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438780G>T , CM000663.2:g.235438780G>T	GRCh38
NC_000001.10:g.235602095G>T , CM000663.1:g.235602095G>T	GRCh37
NC_000001.9:g.233668718G>T	NCBI36
NG_009230.1:g.76368G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.939G>T	ENSP00000355560.4:p.Glu313Asp
ENST00000406207.5:c.1128G>T	ENSP00000384571.1:p.Glu376Asp
ENST00000472011.6:n.1852G>T
ENST00000543662.4:c.1281G>T	ENSP00000439170.1:p.Glu427Asp
ENST00000642339.1:c.*825G>T	ENSP00000495425.1:n.*825G>T
ENST00000642431.1:c.1705G>T
ENST00000642463.1:c.*1026G>T	ENSP00000495007.1:n.*1026G>T
ENST00000642503.1:c.*902G>T	ENSP00000494334.1:n.*902G>T
ENST00000642610.2:c.1128G>T MANE Select	ENSP00000494796.1:p.Glu376Asp
ENST00000642764.1:n.1959G>T
ENST00000643125.1:c.*143G>T	ENSP00000494102.1:n.*143G>T
ENST00000643142.1:c.*619G>T	ENSP00000494755.1:n.*619G>T
ENST00000643238.1:c.*148G>T	ENSP00000495916.1:n.*148G>T
ENST00000643410.1:c.*418G>T	ENSP00000495030.1:n.*418G>T
ENST00000643487.1:n.1815G>T
ENST00000643524.1:c.*713G>T	ENSP00000494026.1:n.*713G>T
ENST00000643615.1:c.*1116+1306G>T	ENSP00000496103.1:n.*1116+1306G>T
ENST00000643993.1:n.1264G>T
ENST00000643994.1:c.*1128G>T	ENSP00000496322.1:n.*1128G>T
ENST00000644037.1:c.*1338G>T	ENSP00000496408.1:n.*1338G>T
ENST00000644055.1:c.*1753G>T	ENSP00000496307.1:n.*1753G>T
ENST00000644126.1:n.2800G>T
ENST00000644217.1:c.1128G>T	ENSP00000494646.1:p.Glu376Asp
ENST00000644265.1:c.497G>T
ENST00000644578.1:c.942G>T	ENSP00000495953.1:p.Glu314Asp
ENST00000644604.1:c.1128G>T	ENSP00000495961.1:p.Glu376Asp
ENST00000644680.1:c.*1649G>T	ENSP00000496173.1:n.*1649G>T
ENST00000644838.1:c.*511G>T	ENSP00000495910.1:n.*511G>T
ENST00000644910.1:c.1735G>T
ENST00000645205.1:c.1128G>T	ENSP00000495823.1:p.Glu376Asp
ENST00000645351.1:c.1128G>T	ENSP00000494319.1:p.Glu376Asp
ENST00000645551.1:c.*845G>T	ENSP00000495928.1:n.*845G>T
ENST00000645578.1:c.*902G>T	ENSP00000496495.1:n.*902G>T
ENST00000645582.1:c.*958G>T	ENSP00000494980.1:n.*958G>T
ENST00000645655.1:c.1128G>T	ENSP00000495202.1:p.Glu376Asp
ENST00000645662.1:c.*587G>T	ENSP00000495964.1:n.*587G>T
ENST00000645836.1:c.*902G>T	ENSP00000493915.1:n.*902G>T
ENST00000645899.1:c.1128G>T	ENSP00000496773.1:p.Glu376Asp
ENST00000645964.1:c.*994G>T	ENSP00000494208.1:n.*994G>T
ENST00000646104.1:c.*1596G>T	ENSP00000495475.1:n.*1596G>T
ENST00000646186.1:c.*800G>T	ENSP00000493806.1:n.*800G>T
ENST00000646286.1:c.*1021G>T	ENSP00000494291.1:n.*1021G>T
ENST00000646463.1:c.*893G>T	ENSP00000494541.1:n.*893G>T
ENST00000646528.1:c.*1844G>T	ENSP00000496553.1:n.*1844G>T
ENST00000646536.1:c.*418G>T	ENSP00000494801.1:n.*418G>T
ENST00000646624.1:c.1128G>T	ENSP00000494575.1:p.Glu376Asp
ENST00000646821.1:c.*418G>T	ENSP00000495257.1:n.*418G>T
ENST00000646842.1:n.572G>T
ENST00000646848.1:c.*343G>T	ENSP00000495831.1:n.*343G>T
ENST00000647186.1:c.1128G>T	ENSP00000494775.1:p.Glu376Asp
ENST00000647233.1:n.2108G>T
ENST00000647322.1:c.719G>T
ENST00000647418.1:c.*902G>T	ENSP00000493552.1:n.*902G>T
ENST00000647428.1:c.789G>T	ENSP00000495630.1:p.Glu263Asp
ENST00000651186.1:c.789G>T	ENSP00000498645.1:p.Glu263Asp
ENST00000366601.7:c.1128G>T	ENSP00000355560.3:p.Glu376Asp
ENST00000406207.4:c.1128G>T	ENSP00000384571.1:p.Glu376Asp
ENST00000472011.5:n.1180G>T
ENST00000543662.3:c.1281G>T	ENSP00000439170.1:p.Glu427Asp
NM_001079515.2:c.1128G>T	NP_001072983.1:p.Glu376Asp
NM_001287801.1:c.1281G>T	NP_001274730.1:p.Glu427Asp
NM_001287802.1:c.789G>T	NP_001274731.1:p.Glu263Asp
NM_003193.4:c.1128G>T	NP_003184.1:p.Glu376Asp
NM_003193.5:c.1128G>T MANE Select	NP_003184.1:p.Glu376Asp
NM_001079515.3:c.1128G>T	NP_001072983.1:p.Glu376Asp
NM_001287801.2:c.1281G>T	NP_001274730.1:p.Glu427Asp
NM_001287802.2:c.789G>T	NP_001274731.1:p.Glu263Asp