Canonical Allele Identifier: CA423771743

Gene: TBCE

Linked Data

• dbSNP Id: rs1222565967
• gnomAD v2: 1-235602161-A-G
• gnomAD v4: 1-235438846-A-G
• MyVariant Identifiers: chr1:g.235602161A>G (hg19) ; chr1:g.235438846A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438846A>G , CM000663.2:g.235438846A>G	GRCh38
NC_000001.10:g.235602161A>G , CM000663.1:g.235602161A>G	GRCh37
NC_000001.9:g.233668784A>G	NCBI36
NG_009230.1:g.76434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1005A>G	ENSP00000355560.4:p.Gly335=
ENST00000406207.5:c.1194A>G	ENSP00000384571.1:p.Gly398=
ENST00000472011.6:n.1918A>G
ENST00000543662.4:c.1347A>G	ENSP00000439170.1:p.Gly449=
ENST00000642339.1:c.*891A>G	ENSP00000495425.1:n.*891A>G
ENST00000642431.1:c.1771A>G
ENST00000642463.1:c.*1092A>G	ENSP00000495007.1:n.*1092A>G
ENST00000642503.1:c.*968A>G	ENSP00000494334.1:n.*968A>G
ENST00000642610.2:c.1194A>G MANE Select	ENSP00000494796.1:p.Gly398=
ENST00000642764.1:n.2025A>G
ENST00000643125.1:c.*209A>G	ENSP00000494102.1:n.*209A>G
ENST00000643142.1:c.*685A>G	ENSP00000494755.1:n.*685A>G
ENST00000643238.1:c.*214A>G	ENSP00000495916.1:n.*214A>G
ENST00000643410.1:c.*484A>G	ENSP00000495030.1:n.*484A>G
ENST00000643487.1:n.1881A>G
ENST00000643524.1:c.*779A>G	ENSP00000494026.1:n.*779A>G
ENST00000643615.1:c.*1116+1372A>G	ENSP00000496103.1:n.*1116+1372A>G
ENST00000643993.1:n.1330A>G
ENST00000643994.1:c.*1194A>G	ENSP00000496322.1:n.*1194A>G
ENST00000644037.1:c.*1404A>G	ENSP00000496408.1:n.*1404A>G
ENST00000644055.1:c.*1819A>G	ENSP00000496307.1:n.*1819A>G
ENST00000644126.1:n.2866A>G
ENST00000644217.1:c.1194A>G	ENSP00000494646.1:p.Gly398=
ENST00000644265.1:c.563A>G
ENST00000644578.1:c.1008A>G	ENSP00000495953.1:p.Gly336=
ENST00000644604.1:c.1194A>G	ENSP00000495961.1:p.Gly398=
ENST00000644680.1:c.*1715A>G	ENSP00000496173.1:n.*1715A>G
ENST00000644838.1:c.*577A>G	ENSP00000495910.1:n.*577A>G
ENST00000644910.1:c.1801A>G
ENST00000645205.1:c.1194A>G	ENSP00000495823.1:p.Gly398=
ENST00000645351.1:c.1194A>G	ENSP00000494319.1:p.Gly398=
ENST00000645551.1:c.*911A>G	ENSP00000495928.1:n.*911A>G
ENST00000645578.1:c.*968A>G	ENSP00000496495.1:n.*968A>G
ENST00000645582.1:c.*1024A>G	ENSP00000494980.1:n.*1024A>G
ENST00000645655.1:c.1194A>G	ENSP00000495202.1:p.Gly398=
ENST00000645662.1:c.*653A>G	ENSP00000495964.1:n.*653A>G
ENST00000645836.1:c.*968A>G	ENSP00000493915.1:n.*968A>G
ENST00000645899.1:c.1194A>G	ENSP00000496773.1:p.Gly398=
ENST00000645964.1:c.*1060A>G	ENSP00000494208.1:n.*1060A>G
ENST00000646104.1:c.*1662A>G	ENSP00000495475.1:n.*1662A>G
ENST00000646186.1:c.*866A>G	ENSP00000493806.1:n.*866A>G
ENST00000646286.1:c.*1087A>G	ENSP00000494291.1:n.*1087A>G
ENST00000646463.1:c.*959A>G	ENSP00000494541.1:n.*959A>G
ENST00000646528.1:c.*1910A>G	ENSP00000496553.1:n.*1910A>G
ENST00000646536.1:c.*484A>G	ENSP00000494801.1:n.*484A>G
ENST00000646624.1:c.1194A>G	ENSP00000494575.1:p.Gly398=
ENST00000646821.1:c.*484A>G	ENSP00000495257.1:n.*484A>G
ENST00000646842.1:n.638A>G
ENST00000646848.1:c.*409A>G	ENSP00000495831.1:n.*409A>G
ENST00000647186.1:c.1194A>G	ENSP00000494775.1:p.Gly398=
ENST00000647233.1:n.2174A>G
ENST00000647322.1:c.785A>G
ENST00000647418.1:c.*968A>G	ENSP00000493552.1:n.*968A>G
ENST00000647428.1:c.855A>G	ENSP00000495630.1:p.Gly285=
ENST00000651186.1:c.855A>G	ENSP00000498645.1:p.Gly285=
ENST00000366601.7:c.1194A>G	ENSP00000355560.3:p.Gly398=
ENST00000406207.4:c.1194A>G	ENSP00000384571.1:p.Gly398=
ENST00000472011.5:n.1246A>G
ENST00000543662.3:c.1347A>G	ENSP00000439170.1:p.Gly449=
NM_001079515.2:c.1194A>G	NP_001072983.1:p.Gly398=
NM_001287801.1:c.1347A>G	NP_001274730.1:p.Gly449=
NM_001287802.1:c.855A>G	NP_001274731.1:p.Gly285=
NM_003193.4:c.1194A>G	NP_003184.1:p.Gly398=
NM_003193.5:c.1194A>G MANE Select	NP_003184.1:p.Gly398=
NM_001079515.3:c.1194A>G	NP_001072983.1:p.Gly398=
NM_001287801.2:c.1347A>G	NP_001274730.1:p.Gly449=
NM_001287802.2:c.855A>G	NP_001274731.1:p.Gly285=