Canonical Allele Identifier: CA344944946

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602127A>C (hg19) ; chr1:g.235438812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438812A>C , CM000663.2:g.235438812A>C	GRCh38
NC_000001.10:g.235602127A>C , CM000663.1:g.235602127A>C	GRCh37
NC_000001.9:g.233668750A>C	NCBI36
NG_009230.1:g.76400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.971A>C	ENSP00000355560.4:p.Lys324Thr
ENST00000406207.5:c.1160A>C	ENSP00000384571.1:p.Lys387Thr
ENST00000472011.6:n.1884A>C
ENST00000543662.4:c.1313A>C	ENSP00000439170.1:p.Lys438Thr
ENST00000642339.1:c.*857A>C	ENSP00000495425.1:n.*857A>C
ENST00000642431.1:c.1737A>C
ENST00000642463.1:c.*1058A>C	ENSP00000495007.1:n.*1058A>C
ENST00000642503.1:c.*934A>C	ENSP00000494334.1:n.*934A>C
ENST00000642610.2:c.1160A>C MANE Select	ENSP00000494796.1:p.Lys387Thr
ENST00000642764.1:n.1991A>C
ENST00000643125.1:c.*175A>C	ENSP00000494102.1:n.*175A>C
ENST00000643142.1:c.*651A>C	ENSP00000494755.1:n.*651A>C
ENST00000643238.1:c.*180A>C	ENSP00000495916.1:n.*180A>C
ENST00000643410.1:c.*450A>C	ENSP00000495030.1:n.*450A>C
ENST00000643487.1:n.1847A>C
ENST00000643524.1:c.*745A>C	ENSP00000494026.1:n.*745A>C
ENST00000643615.1:c.*1116+1338A>C	ENSP00000496103.1:n.*1116+1338A>C
ENST00000643993.1:n.1296A>C
ENST00000643994.1:c.*1160A>C	ENSP00000496322.1:n.*1160A>C
ENST00000644037.1:c.*1370A>C	ENSP00000496408.1:n.*1370A>C
ENST00000644055.1:c.*1785A>C	ENSP00000496307.1:n.*1785A>C
ENST00000644126.1:n.2832A>C
ENST00000644217.1:c.1160A>C	ENSP00000494646.1:p.Lys387Thr
ENST00000644265.1:c.529A>C
ENST00000644578.1:c.974A>C	ENSP00000495953.1:p.Lys325Thr
ENST00000644604.1:c.1160A>C	ENSP00000495961.1:p.Lys387Thr
ENST00000644680.1:c.*1681A>C	ENSP00000496173.1:n.*1681A>C
ENST00000644838.1:c.*543A>C	ENSP00000495910.1:n.*543A>C
ENST00000644910.1:c.1767A>C
ENST00000645205.1:c.1160A>C	ENSP00000495823.1:p.Lys387Thr
ENST00000645351.1:c.1160A>C	ENSP00000494319.1:p.Lys387Thr
ENST00000645551.1:c.*877A>C	ENSP00000495928.1:n.*877A>C
ENST00000645578.1:c.*934A>C	ENSP00000496495.1:n.*934A>C
ENST00000645582.1:c.*990A>C	ENSP00000494980.1:n.*990A>C
ENST00000645655.1:c.1160A>C	ENSP00000495202.1:p.Lys387Thr
ENST00000645662.1:c.*619A>C	ENSP00000495964.1:n.*619A>C
ENST00000645836.1:c.*934A>C	ENSP00000493915.1:n.*934A>C
ENST00000645899.1:c.1160A>C	ENSP00000496773.1:p.Lys387Thr
ENST00000645964.1:c.*1026A>C	ENSP00000494208.1:n.*1026A>C
ENST00000646104.1:c.*1628A>C	ENSP00000495475.1:n.*1628A>C
ENST00000646186.1:c.*832A>C	ENSP00000493806.1:n.*832A>C
ENST00000646286.1:c.*1053A>C	ENSP00000494291.1:n.*1053A>C
ENST00000646463.1:c.*925A>C	ENSP00000494541.1:n.*925A>C
ENST00000646528.1:c.*1876A>C	ENSP00000496553.1:n.*1876A>C
ENST00000646536.1:c.*450A>C	ENSP00000494801.1:n.*450A>C
ENST00000646624.1:c.1160A>C	ENSP00000494575.1:p.Lys387Thr
ENST00000646821.1:c.*450A>C	ENSP00000495257.1:n.*450A>C
ENST00000646842.1:n.604A>C
ENST00000646848.1:c.*375A>C	ENSP00000495831.1:n.*375A>C
ENST00000647186.1:c.1160A>C	ENSP00000494775.1:p.Lys387Thr
ENST00000647233.1:n.2140A>C
ENST00000647322.1:c.751A>C
ENST00000647418.1:c.*934A>C	ENSP00000493552.1:n.*934A>C
ENST00000647428.1:c.821A>C	ENSP00000495630.1:p.Lys274Thr
ENST00000651186.1:c.821A>C	ENSP00000498645.1:p.Lys274Thr
ENST00000366601.7:c.1160A>C	ENSP00000355560.3:p.Lys387Thr
ENST00000406207.4:c.1160A>C	ENSP00000384571.1:p.Lys387Thr
ENST00000472011.5:n.1212A>C
ENST00000543662.3:c.1313A>C	ENSP00000439170.1:p.Lys438Thr
NM_001079515.2:c.1160A>C	NP_001072983.1:p.Lys387Thr
NM_001287801.1:c.1313A>C	NP_001274730.1:p.Lys438Thr
NM_001287802.1:c.821A>C	NP_001274731.1:p.Lys274Thr
NM_003193.4:c.1160A>C	NP_003184.1:p.Lys387Thr
NM_003193.5:c.1160A>C MANE Select	NP_003184.1:p.Lys387Thr
NM_001079515.3:c.1160A>C	NP_001072983.1:p.Lys387Thr
NM_001287801.2:c.1313A>C	NP_001274730.1:p.Lys438Thr
NM_001287802.2:c.821A>C	NP_001274731.1:p.Lys274Thr