Canonical Allele Identifier: CA423771850

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602206A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438891A>T , CM000663.2:g.235438891A>T	GRCh38
NC_000001.10:g.235602206A>T , CM000663.1:g.235602206A>T	GRCh37
NC_000001.9:g.233668829A>T	NCBI36
NG_009230.1:g.76479A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1050A>T	ENSP00000355560.4:p.Thr350=
ENST00000406207.5:c.1239A>T	ENSP00000384571.1:p.Thr413=
ENST00000472011.6:n.1963A>T
ENST00000543662.4:c.1392A>T	ENSP00000439170.1:p.Thr464=
ENST00000642339.1:c.*936A>T	ENSP00000495425.1:n.*936A>T
ENST00000642431.1:c.1816A>T
ENST00000642463.1:c.*1137A>T	ENSP00000495007.1:n.*1137A>T
ENST00000642503.1:c.*1013A>T	ENSP00000494334.1:n.*1013A>T
ENST00000642610.2:c.1239A>T MANE Select	ENSP00000494796.1:p.Thr413=
ENST00000642764.1:n.2070A>T
ENST00000643125.1:c.*254A>T	ENSP00000494102.1:n.*254A>T
ENST00000643142.1:c.*730A>T	ENSP00000494755.1:n.*730A>T
ENST00000643238.1:c.*259A>T	ENSP00000495916.1:n.*259A>T
ENST00000643410.1:c.*529A>T	ENSP00000495030.1:n.*529A>T
ENST00000643487.1:n.1926A>T
ENST00000643524.1:c.*824A>T	ENSP00000494026.1:n.*824A>T
ENST00000643615.1:c.*1116+1417A>T	ENSP00000496103.1:n.*1116+1417A>T
ENST00000643993.1:n.1375A>T
ENST00000643994.1:c.*1239A>T	ENSP00000496322.1:n.*1239A>T
ENST00000644037.1:c.*1449A>T	ENSP00000496408.1:n.*1449A>T
ENST00000644055.1:c.*1864A>T	ENSP00000496307.1:n.*1864A>T
ENST00000644126.1:n.2911A>T
ENST00000644217.1:c.1239A>T	ENSP00000494646.1:p.Thr413=
ENST00000644265.1:c.608A>T
ENST00000644578.1:c.1053A>T	ENSP00000495953.1:p.Thr351=
ENST00000644604.1:c.1239A>T	ENSP00000495961.1:p.Thr413=
ENST00000644680.1:c.*1760A>T	ENSP00000496173.1:n.*1760A>T
ENST00000644838.1:c.*622A>T	ENSP00000495910.1:n.*622A>T
ENST00000644910.1:c.1846A>T
ENST00000645205.1:c.1239A>T	ENSP00000495823.1:p.Thr413=
ENST00000645351.1:c.1239A>T	ENSP00000494319.1:p.Thr413=
ENST00000645551.1:c.*956A>T	ENSP00000495928.1:n.*956A>T
ENST00000645578.1:c.*1013A>T	ENSP00000496495.1:n.*1013A>T
ENST00000645582.1:c.*1069A>T	ENSP00000494980.1:n.*1069A>T
ENST00000645655.1:c.1239A>T	ENSP00000495202.1:p.Thr413=
ENST00000645662.1:c.*698A>T	ENSP00000495964.1:n.*698A>T
ENST00000645836.1:c.*1013A>T	ENSP00000493915.1:n.*1013A>T
ENST00000645899.1:c.1239A>T	ENSP00000496773.1:p.Thr413=
ENST00000645964.1:c.*1105A>T	ENSP00000494208.1:n.*1105A>T
ENST00000646104.1:c.*1707A>T	ENSP00000495475.1:n.*1707A>T
ENST00000646186.1:c.*911A>T	ENSP00000493806.1:n.*911A>T
ENST00000646286.1:c.*1132A>T	ENSP00000494291.1:n.*1132A>T
ENST00000646463.1:c.*1004A>T	ENSP00000494541.1:n.*1004A>T
ENST00000646528.1:c.*1955A>T	ENSP00000496553.1:n.*1955A>T
ENST00000646536.1:c.*529A>T	ENSP00000494801.1:n.*529A>T
ENST00000646624.1:c.1239A>T	ENSP00000494575.1:p.Thr413=
ENST00000646821.1:c.*529A>T	ENSP00000495257.1:n.*529A>T
ENST00000646842.1:n.683A>T
ENST00000646848.1:c.*454A>T	ENSP00000495831.1:n.*454A>T
ENST00000647186.1:c.1239A>T	ENSP00000494775.1:p.Thr413=
ENST00000647233.1:n.2219A>T
ENST00000647322.1:c.830A>T
ENST00000647418.1:c.*1013A>T	ENSP00000493552.1:n.*1013A>T
ENST00000647428.1:c.900A>T	ENSP00000495630.1:p.Thr300=
ENST00000651186.1:c.900A>T	ENSP00000498645.1:p.Thr300=
ENST00000366601.7:c.1239A>T	ENSP00000355560.3:p.Thr413=
ENST00000406207.4:c.1239A>T	ENSP00000384571.1:p.Thr413=
ENST00000472011.5:n.1291A>T
ENST00000543662.3:c.1392A>T	ENSP00000439170.1:p.Thr464=
NM_001079515.2:c.1239A>T	NP_001072983.1:p.Thr413=
NM_001287801.1:c.1392A>T	NP_001274730.1:p.Thr464=
NM_001287802.1:c.900A>T	NP_001274731.1:p.Thr300=
NM_003193.4:c.1239A>T	NP_003184.1:p.Thr413=
NM_003193.5:c.1239A>T MANE Select	NP_003184.1:p.Thr413=
NM_001079515.3:c.1239A>T	NP_001072983.1:p.Thr413=
NM_001287801.2:c.1392A>T	NP_001274730.1:p.Thr464=
NM_001287802.2:c.900A>T	NP_001274731.1:p.Thr300=