Canonical Allele Identifier: CA344945547

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438877-G-C
• MyVariant Identifiers: chr1:g.235602192G>C (hg19) ; chr1:g.235438877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438877G>C , CM000663.2:g.235438877G>C	GRCh38
NC_000001.10:g.235602192G>C , CM000663.1:g.235602192G>C	GRCh37
NC_000001.9:g.233668815G>C	NCBI36
NG_009230.1:g.76465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1036G>C	ENSP00000355560.4:p.Glu346Gln
ENST00000406207.5:c.1225G>C	ENSP00000384571.1:p.Glu409Gln
ENST00000472011.6:n.1949G>C
ENST00000543662.4:c.1378G>C	ENSP00000439170.1:p.Glu460Gln
ENST00000642339.1:c.*922G>C	ENSP00000495425.1:n.*922G>C
ENST00000642431.1:c.1802G>C
ENST00000642463.1:c.*1123G>C	ENSP00000495007.1:n.*1123G>C
ENST00000642503.1:c.*999G>C	ENSP00000494334.1:n.*999G>C
ENST00000642610.2:c.1225G>C MANE Select	ENSP00000494796.1:p.Glu409Gln
ENST00000642764.1:n.2056G>C
ENST00000643125.1:c.*240G>C	ENSP00000494102.1:n.*240G>C
ENST00000643142.1:c.*716G>C	ENSP00000494755.1:n.*716G>C
ENST00000643238.1:c.*245G>C	ENSP00000495916.1:n.*245G>C
ENST00000643410.1:c.*515G>C	ENSP00000495030.1:n.*515G>C
ENST00000643487.1:n.1912G>C
ENST00000643524.1:c.*810G>C	ENSP00000494026.1:n.*810G>C
ENST00000643615.1:c.*1116+1403G>C	ENSP00000496103.1:n.*1116+1403G>C
ENST00000643993.1:n.1361G>C
ENST00000643994.1:c.*1225G>C	ENSP00000496322.1:n.*1225G>C
ENST00000644037.1:c.*1435G>C	ENSP00000496408.1:n.*1435G>C
ENST00000644055.1:c.*1850G>C	ENSP00000496307.1:n.*1850G>C
ENST00000644126.1:n.2897G>C
ENST00000644217.1:c.1225G>C	ENSP00000494646.1:p.Glu409Gln
ENST00000644265.1:c.594G>C
ENST00000644578.1:c.1039G>C	ENSP00000495953.1:p.Glu347Gln
ENST00000644604.1:c.1225G>C	ENSP00000495961.1:p.Glu409Gln
ENST00000644680.1:c.*1746G>C	ENSP00000496173.1:n.*1746G>C
ENST00000644838.1:c.*608G>C	ENSP00000495910.1:n.*608G>C
ENST00000644910.1:c.1832G>C
ENST00000645205.1:c.1225G>C	ENSP00000495823.1:p.Glu409Gln
ENST00000645351.1:c.1225G>C	ENSP00000494319.1:p.Glu409Gln
ENST00000645551.1:c.*942G>C	ENSP00000495928.1:n.*942G>C
ENST00000645578.1:c.*999G>C	ENSP00000496495.1:n.*999G>C
ENST00000645582.1:c.*1055G>C	ENSP00000494980.1:n.*1055G>C
ENST00000645655.1:c.1225G>C	ENSP00000495202.1:p.Glu409Gln
ENST00000645662.1:c.*684G>C	ENSP00000495964.1:n.*684G>C
ENST00000645836.1:c.*999G>C	ENSP00000493915.1:n.*999G>C
ENST00000645899.1:c.1225G>C	ENSP00000496773.1:p.Glu409Gln
ENST00000645964.1:c.*1091G>C	ENSP00000494208.1:n.*1091G>C
ENST00000646104.1:c.*1693G>C	ENSP00000495475.1:n.*1693G>C
ENST00000646186.1:c.*897G>C	ENSP00000493806.1:n.*897G>C
ENST00000646286.1:c.*1118G>C	ENSP00000494291.1:n.*1118G>C
ENST00000646463.1:c.*990G>C	ENSP00000494541.1:n.*990G>C
ENST00000646528.1:c.*1941G>C	ENSP00000496553.1:n.*1941G>C
ENST00000646536.1:c.*515G>C	ENSP00000494801.1:n.*515G>C
ENST00000646624.1:c.1225G>C	ENSP00000494575.1:p.Glu409Gln
ENST00000646821.1:c.*515G>C	ENSP00000495257.1:n.*515G>C
ENST00000646842.1:n.669G>C
ENST00000646848.1:c.*440G>C	ENSP00000495831.1:n.*440G>C
ENST00000647186.1:c.1225G>C	ENSP00000494775.1:p.Glu409Gln
ENST00000647233.1:n.2205G>C
ENST00000647322.1:c.816G>C
ENST00000647418.1:c.*999G>C	ENSP00000493552.1:n.*999G>C
ENST00000647428.1:c.886G>C	ENSP00000495630.1:p.Glu296Gln
ENST00000651186.1:c.886G>C	ENSP00000498645.1:p.Glu296Gln
ENST00000366601.7:c.1225G>C	ENSP00000355560.3:p.Glu409Gln
ENST00000406207.4:c.1225G>C	ENSP00000384571.1:p.Glu409Gln
ENST00000472011.5:n.1277G>C
ENST00000543662.3:c.1378G>C	ENSP00000439170.1:p.Glu460Gln
NM_001079515.2:c.1225G>C	NP_001072983.1:p.Glu409Gln
NM_001287801.1:c.1378G>C	NP_001274730.1:p.Glu460Gln
NM_001287802.1:c.886G>C	NP_001274731.1:p.Glu296Gln
NM_003193.4:c.1225G>C	NP_003184.1:p.Glu409Gln
NM_003193.5:c.1225G>C MANE Select	NP_003184.1:p.Glu409Gln
NM_001079515.3:c.1225G>C	NP_001072983.1:p.Glu409Gln
NM_001287801.2:c.1378G>C	NP_001274730.1:p.Glu460Gln
NM_001287802.2:c.886G>C	NP_001274731.1:p.Glu296Gln