Canonical Allele Identifier: CA344945839

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602217G>T (hg19) ; chr1:g.235438902G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438902G>T , CM000663.2:g.235438902G>T	GRCh38
NC_000001.10:g.235602217G>T , CM000663.1:g.235602217G>T	GRCh37
NC_000001.9:g.233668840G>T	NCBI36
NG_009230.1:g.76490G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1061G>T	ENSP00000355560.4:p.Arg354Ile
ENST00000406207.5:c.1250G>T	ENSP00000384571.1:p.Arg417Ile
ENST00000472011.6:n.1974G>T
ENST00000543662.4:c.1403G>T	ENSP00000439170.1:p.Arg468Ile
ENST00000642339.1:c.*947G>T	ENSP00000495425.1:n.*947G>T
ENST00000642431.1:c.1827G>T
ENST00000642463.1:c.*1148G>T	ENSP00000495007.1:n.*1148G>T
ENST00000642503.1:c.*1024G>T	ENSP00000494334.1:n.*1024G>T
ENST00000642610.2:c.1250G>T MANE Select	ENSP00000494796.1:p.Arg417Ile
ENST00000642764.1:n.2081G>T
ENST00000643125.1:c.*265G>T	ENSP00000494102.1:n.*265G>T
ENST00000643142.1:c.*741G>T	ENSP00000494755.1:n.*741G>T
ENST00000643238.1:c.*270G>T	ENSP00000495916.1:n.*270G>T
ENST00000643410.1:c.*540G>T	ENSP00000495030.1:n.*540G>T
ENST00000643487.1:n.1937G>T
ENST00000643524.1:c.*835G>T	ENSP00000494026.1:n.*835G>T
ENST00000643615.1:c.*1116+1428G>T	ENSP00000496103.1:n.*1116+1428G>T
ENST00000643993.1:n.1386G>T
ENST00000643994.1:c.*1250G>T	ENSP00000496322.1:n.*1250G>T
ENST00000644037.1:c.*1460G>T	ENSP00000496408.1:n.*1460G>T
ENST00000644055.1:c.*1875G>T	ENSP00000496307.1:n.*1875G>T
ENST00000644126.1:n.2922G>T
ENST00000644217.1:c.1250G>T	ENSP00000494646.1:p.Arg417Ile
ENST00000644265.1:c.619G>T
ENST00000644578.1:c.1064G>T	ENSP00000495953.1:p.Arg355Ile
ENST00000644604.1:c.1250G>T	ENSP00000495961.1:p.Arg417Ile
ENST00000644680.1:c.*1771G>T	ENSP00000496173.1:n.*1771G>T
ENST00000644838.1:c.*633G>T	ENSP00000495910.1:n.*633G>T
ENST00000644910.1:c.1857G>T
ENST00000645205.1:c.1250G>T	ENSP00000495823.1:p.Arg417Ile
ENST00000645351.1:c.1250G>T	ENSP00000494319.1:p.Arg417Ile
ENST00000645551.1:c.*967G>T	ENSP00000495928.1:n.*967G>T
ENST00000645578.1:c.*1024G>T	ENSP00000496495.1:n.*1024G>T
ENST00000645582.1:c.*1080G>T	ENSP00000494980.1:n.*1080G>T
ENST00000645655.1:c.1250G>T	ENSP00000495202.1:p.Arg417Ile
ENST00000645662.1:c.*709G>T	ENSP00000495964.1:n.*709G>T
ENST00000645836.1:c.*1024G>T	ENSP00000493915.1:n.*1024G>T
ENST00000645899.1:c.1250G>T	ENSP00000496773.1:p.Arg417Ile
ENST00000645964.1:c.*1116G>T	ENSP00000494208.1:n.*1116G>T
ENST00000646104.1:c.*1718G>T	ENSP00000495475.1:n.*1718G>T
ENST00000646186.1:c.*922G>T	ENSP00000493806.1:n.*922G>T
ENST00000646286.1:c.*1143G>T	ENSP00000494291.1:n.*1143G>T
ENST00000646463.1:c.*1015G>T	ENSP00000494541.1:n.*1015G>T
ENST00000646528.1:c.*1966G>T	ENSP00000496553.1:n.*1966G>T
ENST00000646536.1:c.*540G>T	ENSP00000494801.1:n.*540G>T
ENST00000646624.1:c.1250G>T	ENSP00000494575.1:p.Arg417Ile
ENST00000646821.1:c.*540G>T	ENSP00000495257.1:n.*540G>T
ENST00000646842.1:n.694G>T
ENST00000646848.1:c.*465G>T	ENSP00000495831.1:n.*465G>T
ENST00000647186.1:c.1250G>T	ENSP00000494775.1:p.Arg417Ile
ENST00000647233.1:n.2230G>T
ENST00000647322.1:c.841G>T
ENST00000647418.1:c.*1024G>T	ENSP00000493552.1:n.*1024G>T
ENST00000647428.1:c.911G>T	ENSP00000495630.1:p.Arg304Ile
ENST00000651186.1:c.911G>T	ENSP00000498645.1:p.Arg304Ile
ENST00000366601.7:c.1250G>T	ENSP00000355560.3:p.Arg417Ile
ENST00000406207.4:c.1250G>T	ENSP00000384571.1:p.Arg417Ile
ENST00000472011.5:n.1302G>T
ENST00000543662.3:c.1403G>T	ENSP00000439170.1:p.Arg468Ile
NM_001079515.2:c.1250G>T	NP_001072983.1:p.Arg417Ile
NM_001287801.1:c.1403G>T	NP_001274730.1:p.Arg468Ile
NM_001287802.1:c.911G>T	NP_001274731.1:p.Arg304Ile
NM_003193.4:c.1250G>T	NP_003184.1:p.Arg417Ile
NM_003193.5:c.1250G>T MANE Select	NP_003184.1:p.Arg417Ile
NM_001079515.3:c.1250G>T	NP_001072983.1:p.Arg417Ile
NM_001287801.2:c.1403G>T	NP_001274730.1:p.Arg468Ile
NM_001287802.2:c.911G>T	NP_001274731.1:p.Arg304Ile