Canonical Allele Identifier: CA344944617

Gene: TBCE

Linked Data

• dbSNP Id: rs1375662910
• gnomAD v3: 1-235438778-G-C
• gnomAD v4: 1-235438778-G-C
• MyVariant Identifiers: chr1:g.235602093G>C (hg19) ; chr1:g.235438778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438778G>C , CM000663.2:g.235438778G>C	GRCh38
NC_000001.10:g.235602093G>C , CM000663.1:g.235602093G>C	GRCh37
NC_000001.9:g.233668716G>C	NCBI36
NG_009230.1:g.76366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.937G>C	ENSP00000355560.4:p.Glu313Gln
ENST00000406207.5:c.1126G>C	ENSP00000384571.1:p.Glu376Gln
ENST00000472011.6:n.1850G>C
ENST00000543662.4:c.1279G>C	ENSP00000439170.1:p.Glu427Gln
ENST00000642339.1:c.*823G>C	ENSP00000495425.1:n.*823G>C
ENST00000642431.1:c.1703G>C
ENST00000642463.1:c.*1024G>C	ENSP00000495007.1:n.*1024G>C
ENST00000642503.1:c.*900G>C	ENSP00000494334.1:n.*900G>C
ENST00000642610.2:c.1126G>C MANE Select	ENSP00000494796.1:p.Glu376Gln
ENST00000642764.1:n.1957G>C
ENST00000643125.1:c.*141G>C	ENSP00000494102.1:n.*141G>C
ENST00000643142.1:c.*617G>C	ENSP00000494755.1:n.*617G>C
ENST00000643238.1:c.*146G>C	ENSP00000495916.1:n.*146G>C
ENST00000643410.1:c.*416G>C	ENSP00000495030.1:n.*416G>C
ENST00000643487.1:n.1813G>C
ENST00000643524.1:c.*711G>C	ENSP00000494026.1:n.*711G>C
ENST00000643615.1:c.*1116+1304G>C	ENSP00000496103.1:n.*1116+1304G>C
ENST00000643993.1:n.1262G>C
ENST00000643994.1:c.*1126G>C	ENSP00000496322.1:n.*1126G>C
ENST00000644037.1:c.*1336G>C	ENSP00000496408.1:n.*1336G>C
ENST00000644055.1:c.*1751G>C	ENSP00000496307.1:n.*1751G>C
ENST00000644126.1:n.2798G>C
ENST00000644217.1:c.1126G>C	ENSP00000494646.1:p.Glu376Gln
ENST00000644265.1:c.495G>C
ENST00000644578.1:c.940G>C	ENSP00000495953.1:p.Glu314Gln
ENST00000644604.1:c.1126G>C	ENSP00000495961.1:p.Glu376Gln
ENST00000644680.1:c.*1647G>C	ENSP00000496173.1:n.*1647G>C
ENST00000644838.1:c.*509G>C	ENSP00000495910.1:n.*509G>C
ENST00000644910.1:c.1733G>C
ENST00000645205.1:c.1126G>C	ENSP00000495823.1:p.Glu376Gln
ENST00000645351.1:c.1126G>C	ENSP00000494319.1:p.Glu376Gln
ENST00000645551.1:c.*843G>C	ENSP00000495928.1:n.*843G>C
ENST00000645578.1:c.*900G>C	ENSP00000496495.1:n.*900G>C
ENST00000645582.1:c.*956G>C	ENSP00000494980.1:n.*956G>C
ENST00000645655.1:c.1126G>C	ENSP00000495202.1:p.Glu376Gln
ENST00000645662.1:c.*585G>C	ENSP00000495964.1:n.*585G>C
ENST00000645836.1:c.*900G>C	ENSP00000493915.1:n.*900G>C
ENST00000645899.1:c.1126G>C	ENSP00000496773.1:p.Glu376Gln
ENST00000645964.1:c.*992G>C	ENSP00000494208.1:n.*992G>C
ENST00000646104.1:c.*1594G>C	ENSP00000495475.1:n.*1594G>C
ENST00000646186.1:c.*798G>C	ENSP00000493806.1:n.*798G>C
ENST00000646286.1:c.*1019G>C	ENSP00000494291.1:n.*1019G>C
ENST00000646463.1:c.*891G>C	ENSP00000494541.1:n.*891G>C
ENST00000646528.1:c.*1842G>C	ENSP00000496553.1:n.*1842G>C
ENST00000646536.1:c.*416G>C	ENSP00000494801.1:n.*416G>C
ENST00000646624.1:c.1126G>C	ENSP00000494575.1:p.Glu376Gln
ENST00000646821.1:c.*416G>C	ENSP00000495257.1:n.*416G>C
ENST00000646842.1:n.570G>C
ENST00000646848.1:c.*341G>C	ENSP00000495831.1:n.*341G>C
ENST00000647186.1:c.1126G>C	ENSP00000494775.1:p.Glu376Gln
ENST00000647233.1:n.2106G>C
ENST00000647322.1:c.717G>C
ENST00000647418.1:c.*900G>C	ENSP00000493552.1:n.*900G>C
ENST00000647428.1:c.787G>C	ENSP00000495630.1:p.Glu263Gln
ENST00000651186.1:c.787G>C	ENSP00000498645.1:p.Glu263Gln
ENST00000366601.7:c.1126G>C	ENSP00000355560.3:p.Glu376Gln
ENST00000406207.4:c.1126G>C	ENSP00000384571.1:p.Glu376Gln
ENST00000472011.5:n.1178G>C
ENST00000543662.3:c.1279G>C	ENSP00000439170.1:p.Glu427Gln
NM_001079515.2:c.1126G>C	NP_001072983.1:p.Glu376Gln
NM_001287801.1:c.1279G>C	NP_001274730.1:p.Glu427Gln
NM_001287802.1:c.787G>C	NP_001274731.1:p.Glu263Gln
NM_003193.4:c.1126G>C	NP_003184.1:p.Glu376Gln
NM_003193.5:c.1126G>C MANE Select	NP_003184.1:p.Glu376Gln
NM_001079515.3:c.1126G>C	NP_001072983.1:p.Glu376Gln
NM_001287801.2:c.1279G>C	NP_001274730.1:p.Glu427Gln
NM_001287802.2:c.787G>C	NP_001274731.1:p.Glu263Gln