Canonical Allele Identifier: CA1464366

Gene: TBCE

Linked Data

• ClinVar Variation Id: 2876613
• ClinVar RCV Id: RCV003710390
• dbSNP Id: rs750280022
• ExAC: 1:235602137 A / G
• gnomAD v2: 1-235602137-A-G
• gnomAD v3: 1-235438822-A-G
• gnomAD v4: 1-235438822-A-G
• MyVariant Identifiers: chr1:g.235602137A>G (hg19) ; chr1:g.235438822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438822A>G , CM000663.2:g.235438822A>G	GRCh38
NC_000001.10:g.235602137A>G , CM000663.1:g.235602137A>G	GRCh37
NC_000001.9:g.233668760A>G	NCBI36
NG_009230.1:g.76410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.981A>G	ENSP00000355560.4:p.Gly327=
ENST00000406207.5:c.1170A>G	ENSP00000384571.1:p.Gly390=
ENST00000472011.6:n.1894A>G
ENST00000543662.4:c.1323A>G	ENSP00000439170.1:p.Gly441=
ENST00000642339.1:c.*867A>G	ENSP00000495425.1:n.*867A>G
ENST00000642431.1:c.1747A>G
ENST00000642463.1:c.*1068A>G	ENSP00000495007.1:n.*1068A>G
ENST00000642503.1:c.*944A>G	ENSP00000494334.1:n.*944A>G
ENST00000642610.2:c.1170A>G MANE Select	ENSP00000494796.1:p.Gly390=
ENST00000642764.1:n.2001A>G
ENST00000643125.1:c.*185A>G	ENSP00000494102.1:n.*185A>G
ENST00000643142.1:c.*661A>G	ENSP00000494755.1:n.*661A>G
ENST00000643238.1:c.*190A>G	ENSP00000495916.1:n.*190A>G
ENST00000643410.1:c.*460A>G	ENSP00000495030.1:n.*460A>G
ENST00000643487.1:n.1857A>G
ENST00000643524.1:c.*755A>G	ENSP00000494026.1:n.*755A>G
ENST00000643615.1:c.*1116+1348A>G	ENSP00000496103.1:n.*1116+1348A>G
ENST00000643993.1:n.1306A>G
ENST00000643994.1:c.*1170A>G	ENSP00000496322.1:n.*1170A>G
ENST00000644037.1:c.*1380A>G	ENSP00000496408.1:n.*1380A>G
ENST00000644055.1:c.*1795A>G	ENSP00000496307.1:n.*1795A>G
ENST00000644126.1:n.2842A>G
ENST00000644217.1:c.1170A>G	ENSP00000494646.1:p.Gly390=
ENST00000644265.1:c.539A>G
ENST00000644578.1:c.984A>G	ENSP00000495953.1:p.Gly328=
ENST00000644604.1:c.1170A>G	ENSP00000495961.1:p.Gly390=
ENST00000644680.1:c.*1691A>G	ENSP00000496173.1:n.*1691A>G
ENST00000644838.1:c.*553A>G	ENSP00000495910.1:n.*553A>G
ENST00000644910.1:c.1777A>G
ENST00000645205.1:c.1170A>G	ENSP00000495823.1:p.Gly390=
ENST00000645351.1:c.1170A>G	ENSP00000494319.1:p.Gly390=
ENST00000645551.1:c.*887A>G	ENSP00000495928.1:n.*887A>G
ENST00000645578.1:c.*944A>G	ENSP00000496495.1:n.*944A>G
ENST00000645582.1:c.*1000A>G	ENSP00000494980.1:n.*1000A>G
ENST00000645655.1:c.1170A>G	ENSP00000495202.1:p.Gly390=
ENST00000645662.1:c.*629A>G	ENSP00000495964.1:n.*629A>G
ENST00000645836.1:c.*944A>G	ENSP00000493915.1:n.*944A>G
ENST00000645899.1:c.1170A>G	ENSP00000496773.1:p.Gly390=
ENST00000645964.1:c.*1036A>G	ENSP00000494208.1:n.*1036A>G
ENST00000646104.1:c.*1638A>G	ENSP00000495475.1:n.*1638A>G
ENST00000646186.1:c.*842A>G	ENSP00000493806.1:n.*842A>G
ENST00000646286.1:c.*1063A>G	ENSP00000494291.1:n.*1063A>G
ENST00000646463.1:c.*935A>G	ENSP00000494541.1:n.*935A>G
ENST00000646528.1:c.*1886A>G	ENSP00000496553.1:n.*1886A>G
ENST00000646536.1:c.*460A>G	ENSP00000494801.1:n.*460A>G
ENST00000646624.1:c.1170A>G	ENSP00000494575.1:p.Gly390=
ENST00000646821.1:c.*460A>G	ENSP00000495257.1:n.*460A>G
ENST00000646842.1:n.614A>G
ENST00000646848.1:c.*385A>G	ENSP00000495831.1:n.*385A>G
ENST00000647186.1:c.1170A>G	ENSP00000494775.1:p.Gly390=
ENST00000647233.1:n.2150A>G
ENST00000647322.1:c.761A>G
ENST00000647418.1:c.*944A>G	ENSP00000493552.1:n.*944A>G
ENST00000647428.1:c.831A>G	ENSP00000495630.1:p.Gly277=
ENST00000651186.1:c.831A>G	ENSP00000498645.1:p.Gly277=
ENST00000366601.7:c.1170A>G	ENSP00000355560.3:p.Gly390=
ENST00000406207.4:c.1170A>G	ENSP00000384571.1:p.Gly390=
ENST00000472011.5:n.1222A>G
ENST00000543662.3:c.1323A>G	ENSP00000439170.1:p.Gly441=
NM_001079515.2:c.1170A>G	NP_001072983.1:p.Gly390=
NM_001287801.1:c.1323A>G	NP_001274730.1:p.Gly441=
NM_001287802.1:c.831A>G	NP_001274731.1:p.Gly277=
NM_003193.4:c.1170A>G	NP_003184.1:p.Gly390=
NM_003193.5:c.1170A>G MANE Select	NP_003184.1:p.Gly390=
NM_001079515.3:c.1170A>G	NP_001072983.1:p.Gly390=
NM_001287801.2:c.1323A>G	NP_001274730.1:p.Gly441=
NM_001287802.2:c.831A>G	NP_001274731.1:p.Gly277=