Canonical Allele Identifier: CA344945758

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602211A>T (hg19) ; chr1:g.235438896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438896A>T , CM000663.2:g.235438896A>T	GRCh38
NC_000001.10:g.235602211A>T , CM000663.1:g.235602211A>T	GRCh37
NC_000001.9:g.233668834A>T	NCBI36
NG_009230.1:g.76484A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1055A>T	ENSP00000355560.4:p.His352Leu
ENST00000406207.5:c.1244A>T	ENSP00000384571.1:p.His415Leu
ENST00000472011.6:n.1968A>T
ENST00000543662.4:c.1397A>T	ENSP00000439170.1:p.His466Leu
ENST00000642339.1:c.*941A>T	ENSP00000495425.1:n.*941A>T
ENST00000642431.1:c.1821A>T
ENST00000642463.1:c.*1142A>T	ENSP00000495007.1:n.*1142A>T
ENST00000642503.1:c.*1018A>T	ENSP00000494334.1:n.*1018A>T
ENST00000642610.2:c.1244A>T MANE Select	ENSP00000494796.1:p.His415Leu
ENST00000642764.1:n.2075A>T
ENST00000643125.1:c.*259A>T	ENSP00000494102.1:n.*259A>T
ENST00000643142.1:c.*735A>T	ENSP00000494755.1:n.*735A>T
ENST00000643238.1:c.*264A>T	ENSP00000495916.1:n.*264A>T
ENST00000643410.1:c.*534A>T	ENSP00000495030.1:n.*534A>T
ENST00000643487.1:n.1931A>T
ENST00000643524.1:c.*829A>T	ENSP00000494026.1:n.*829A>T
ENST00000643615.1:c.*1116+1422A>T	ENSP00000496103.1:n.*1116+1422A>T
ENST00000643993.1:n.1380A>T
ENST00000643994.1:c.*1244A>T	ENSP00000496322.1:n.*1244A>T
ENST00000644037.1:c.*1454A>T	ENSP00000496408.1:n.*1454A>T
ENST00000644055.1:c.*1869A>T	ENSP00000496307.1:n.*1869A>T
ENST00000644126.1:n.2916A>T
ENST00000644217.1:c.1244A>T	ENSP00000494646.1:p.His415Leu
ENST00000644265.1:c.613A>T
ENST00000644578.1:c.1058A>T	ENSP00000495953.1:p.His353Leu
ENST00000644604.1:c.1244A>T	ENSP00000495961.1:p.His415Leu
ENST00000644680.1:c.*1765A>T	ENSP00000496173.1:n.*1765A>T
ENST00000644838.1:c.*627A>T	ENSP00000495910.1:n.*627A>T
ENST00000644910.1:c.1851A>T
ENST00000645205.1:c.1244A>T	ENSP00000495823.1:p.His415Leu
ENST00000645351.1:c.1244A>T	ENSP00000494319.1:p.His415Leu
ENST00000645551.1:c.*961A>T	ENSP00000495928.1:n.*961A>T
ENST00000645578.1:c.*1018A>T	ENSP00000496495.1:n.*1018A>T
ENST00000645582.1:c.*1074A>T	ENSP00000494980.1:n.*1074A>T
ENST00000645655.1:c.1244A>T	ENSP00000495202.1:p.His415Leu
ENST00000645662.1:c.*703A>T	ENSP00000495964.1:n.*703A>T
ENST00000645836.1:c.*1018A>T	ENSP00000493915.1:n.*1018A>T
ENST00000645899.1:c.1244A>T	ENSP00000496773.1:p.His415Leu
ENST00000645964.1:c.*1110A>T	ENSP00000494208.1:n.*1110A>T
ENST00000646104.1:c.*1712A>T	ENSP00000495475.1:n.*1712A>T
ENST00000646186.1:c.*916A>T	ENSP00000493806.1:n.*916A>T
ENST00000646286.1:c.*1137A>T	ENSP00000494291.1:n.*1137A>T
ENST00000646463.1:c.*1009A>T	ENSP00000494541.1:n.*1009A>T
ENST00000646528.1:c.*1960A>T	ENSP00000496553.1:n.*1960A>T
ENST00000646536.1:c.*534A>T	ENSP00000494801.1:n.*534A>T
ENST00000646624.1:c.1244A>T	ENSP00000494575.1:p.His415Leu
ENST00000646821.1:c.*534A>T	ENSP00000495257.1:n.*534A>T
ENST00000646842.1:n.688A>T
ENST00000646848.1:c.*459A>T	ENSP00000495831.1:n.*459A>T
ENST00000647186.1:c.1244A>T	ENSP00000494775.1:p.His415Leu
ENST00000647233.1:n.2224A>T
ENST00000647322.1:c.835A>T
ENST00000647418.1:c.*1018A>T	ENSP00000493552.1:n.*1018A>T
ENST00000647428.1:c.905A>T	ENSP00000495630.1:p.His302Leu
ENST00000651186.1:c.905A>T	ENSP00000498645.1:p.His302Leu
ENST00000366601.7:c.1244A>T	ENSP00000355560.3:p.His415Leu
ENST00000406207.4:c.1244A>T	ENSP00000384571.1:p.His415Leu
ENST00000472011.5:n.1296A>T
ENST00000543662.3:c.1397A>T	ENSP00000439170.1:p.His466Leu
NM_001079515.2:c.1244A>T	NP_001072983.1:p.His415Leu
NM_001287801.1:c.1397A>T	NP_001274730.1:p.His466Leu
NM_001287802.1:c.905A>T	NP_001274731.1:p.His302Leu
NM_003193.4:c.1244A>T	NP_003184.1:p.His415Leu
NM_003193.5:c.1244A>T MANE Select	NP_003184.1:p.His415Leu
NM_001079515.3:c.1244A>T	NP_001072983.1:p.His415Leu
NM_001287801.2:c.1397A>T	NP_001274730.1:p.His466Leu
NM_001287802.2:c.905A>T	NP_001274731.1:p.His302Leu