Canonical Allele Identifier: CA1464368

Gene: TBCE

Linked Data

• dbSNP Id: rs376477598
• ExAC: 1:235602151 A / G
• gnomAD v2: 1-235602151-A-G
• gnomAD v3: 1-235438836-A-G
• gnomAD v4: 1-235438836-A-G
• MyVariant Identifiers: chr1:g.235602151A>G (hg19) ; chr1:g.235438836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438836A>G , CM000663.2:g.235438836A>G	GRCh38
NC_000001.10:g.235602151A>G , CM000663.1:g.235602151A>G	GRCh37
NC_000001.9:g.233668774A>G	NCBI36
NG_009230.1:g.76424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.995A>G	ENSP00000355560.4:p.Gln332Arg
ENST00000406207.5:c.1184A>G	ENSP00000384571.1:p.Gln395Arg
ENST00000472011.6:n.1908A>G
ENST00000543662.4:c.1337A>G	ENSP00000439170.1:p.Gln446Arg
ENST00000642339.1:c.*881A>G	ENSP00000495425.1:n.*881A>G
ENST00000642431.1:c.1761A>G
ENST00000642463.1:c.*1082A>G	ENSP00000495007.1:n.*1082A>G
ENST00000642503.1:c.*958A>G	ENSP00000494334.1:n.*958A>G
ENST00000642610.2:c.1184A>G MANE Select	ENSP00000494796.1:p.Gln395Arg
ENST00000642764.1:n.2015A>G
ENST00000643125.1:c.*199A>G	ENSP00000494102.1:n.*199A>G
ENST00000643142.1:c.*675A>G	ENSP00000494755.1:n.*675A>G
ENST00000643238.1:c.*204A>G	ENSP00000495916.1:n.*204A>G
ENST00000643410.1:c.*474A>G	ENSP00000495030.1:n.*474A>G
ENST00000643487.1:n.1871A>G
ENST00000643524.1:c.*769A>G	ENSP00000494026.1:n.*769A>G
ENST00000643615.1:c.*1116+1362A>G	ENSP00000496103.1:n.*1116+1362A>G
ENST00000643993.1:n.1320A>G
ENST00000643994.1:c.*1184A>G	ENSP00000496322.1:n.*1184A>G
ENST00000644037.1:c.*1394A>G	ENSP00000496408.1:n.*1394A>G
ENST00000644055.1:c.*1809A>G	ENSP00000496307.1:n.*1809A>G
ENST00000644126.1:n.2856A>G
ENST00000644217.1:c.1184A>G	ENSP00000494646.1:p.Gln395Arg
ENST00000644265.1:c.553A>G
ENST00000644578.1:c.998A>G	ENSP00000495953.1:p.Gln333Arg
ENST00000644604.1:c.1184A>G	ENSP00000495961.1:p.Gln395Arg
ENST00000644680.1:c.*1705A>G	ENSP00000496173.1:n.*1705A>G
ENST00000644838.1:c.*567A>G	ENSP00000495910.1:n.*567A>G
ENST00000644910.1:c.1791A>G
ENST00000645205.1:c.1184A>G	ENSP00000495823.1:p.Gln395Arg
ENST00000645351.1:c.1184A>G	ENSP00000494319.1:p.Gln395Arg
ENST00000645551.1:c.*901A>G	ENSP00000495928.1:n.*901A>G
ENST00000645578.1:c.*958A>G	ENSP00000496495.1:n.*958A>G
ENST00000645582.1:c.*1014A>G	ENSP00000494980.1:n.*1014A>G
ENST00000645655.1:c.1184A>G	ENSP00000495202.1:p.Gln395Arg
ENST00000645662.1:c.*643A>G	ENSP00000495964.1:n.*643A>G
ENST00000645836.1:c.*958A>G	ENSP00000493915.1:n.*958A>G
ENST00000645899.1:c.1184A>G	ENSP00000496773.1:p.Gln395Arg
ENST00000645964.1:c.*1050A>G	ENSP00000494208.1:n.*1050A>G
ENST00000646104.1:c.*1652A>G	ENSP00000495475.1:n.*1652A>G
ENST00000646186.1:c.*856A>G	ENSP00000493806.1:n.*856A>G
ENST00000646286.1:c.*1077A>G	ENSP00000494291.1:n.*1077A>G
ENST00000646463.1:c.*949A>G	ENSP00000494541.1:n.*949A>G
ENST00000646528.1:c.*1900A>G	ENSP00000496553.1:n.*1900A>G
ENST00000646536.1:c.*474A>G	ENSP00000494801.1:n.*474A>G
ENST00000646624.1:c.1184A>G	ENSP00000494575.1:p.Gln395Arg
ENST00000646821.1:c.*474A>G	ENSP00000495257.1:n.*474A>G
ENST00000646842.1:n.628A>G
ENST00000646848.1:c.*399A>G	ENSP00000495831.1:n.*399A>G
ENST00000647186.1:c.1184A>G	ENSP00000494775.1:p.Gln395Arg
ENST00000647233.1:n.2164A>G
ENST00000647322.1:c.775A>G
ENST00000647418.1:c.*958A>G	ENSP00000493552.1:n.*958A>G
ENST00000647428.1:c.845A>G	ENSP00000495630.1:p.Gln282Arg
ENST00000651186.1:c.845A>G	ENSP00000498645.1:p.Gln282Arg
ENST00000366601.7:c.1184A>G	ENSP00000355560.3:p.Gln395Arg
ENST00000406207.4:c.1184A>G	ENSP00000384571.1:p.Gln395Arg
ENST00000472011.5:n.1236A>G
ENST00000543662.3:c.1337A>G	ENSP00000439170.1:p.Gln446Arg
NM_001079515.2:c.1184A>G	NP_001072983.1:p.Gln395Arg
NM_001287801.1:c.1337A>G	NP_001274730.1:p.Gln446Arg
NM_001287802.1:c.845A>G	NP_001274731.1:p.Gln282Arg
NM_003193.4:c.1184A>G	NP_003184.1:p.Gln395Arg
NM_003193.5:c.1184A>G MANE Select	NP_003184.1:p.Gln395Arg
NM_001079515.3:c.1184A>G	NP_001072983.1:p.Gln395Arg
NM_001287801.2:c.1337A>G	NP_001274730.1:p.Gln446Arg
NM_001287802.2:c.845A>G	NP_001274731.1:p.Gln282Arg