Canonical Allele Identifier: CA344944697

Gene: TBCE

Linked Data

• dbSNP Id: rs1572436859
• MyVariant Identifiers: chr1:g.235602105A>G (hg19) ; chr1:g.235438790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438790A>G , CM000663.2:g.235438790A>G	GRCh38
NC_000001.10:g.235602105A>G , CM000663.1:g.235602105A>G	GRCh37
NC_000001.9:g.233668728A>G	NCBI36
NG_009230.1:g.76378A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.949A>G	ENSP00000355560.4:p.Arg317Gly
ENST00000406207.5:c.1138A>G	ENSP00000384571.1:p.Arg380Gly
ENST00000472011.6:n.1862A>G
ENST00000543662.4:c.1291A>G	ENSP00000439170.1:p.Arg431Gly
ENST00000642339.1:c.*835A>G	ENSP00000495425.1:n.*835A>G
ENST00000642431.1:c.1715A>G
ENST00000642463.1:c.*1036A>G	ENSP00000495007.1:n.*1036A>G
ENST00000642503.1:c.*912A>G	ENSP00000494334.1:n.*912A>G
ENST00000642610.2:c.1138A>G MANE Select	ENSP00000494796.1:p.Arg380Gly
ENST00000642764.1:n.1969A>G
ENST00000643125.1:c.*153A>G	ENSP00000494102.1:n.*153A>G
ENST00000643142.1:c.*629A>G	ENSP00000494755.1:n.*629A>G
ENST00000643238.1:c.*158A>G	ENSP00000495916.1:n.*158A>G
ENST00000643410.1:c.*428A>G	ENSP00000495030.1:n.*428A>G
ENST00000643487.1:n.1825A>G
ENST00000643524.1:c.*723A>G	ENSP00000494026.1:n.*723A>G
ENST00000643615.1:c.*1116+1316A>G	ENSP00000496103.1:n.*1116+1316A>G
ENST00000643993.1:n.1274A>G
ENST00000643994.1:c.*1138A>G	ENSP00000496322.1:n.*1138A>G
ENST00000644037.1:c.*1348A>G	ENSP00000496408.1:n.*1348A>G
ENST00000644055.1:c.*1763A>G	ENSP00000496307.1:n.*1763A>G
ENST00000644126.1:n.2810A>G
ENST00000644217.1:c.1138A>G	ENSP00000494646.1:p.Arg380Gly
ENST00000644265.1:c.507A>G
ENST00000644578.1:c.952A>G	ENSP00000495953.1:p.Arg318Gly
ENST00000644604.1:c.1138A>G	ENSP00000495961.1:p.Arg380Gly
ENST00000644680.1:c.*1659A>G	ENSP00000496173.1:n.*1659A>G
ENST00000644838.1:c.*521A>G	ENSP00000495910.1:n.*521A>G
ENST00000644910.1:c.1745A>G
ENST00000645205.1:c.1138A>G	ENSP00000495823.1:p.Arg380Gly
ENST00000645351.1:c.1138A>G	ENSP00000494319.1:p.Arg380Gly
ENST00000645551.1:c.*855A>G	ENSP00000495928.1:n.*855A>G
ENST00000645578.1:c.*912A>G	ENSP00000496495.1:n.*912A>G
ENST00000645582.1:c.*968A>G	ENSP00000494980.1:n.*968A>G
ENST00000645655.1:c.1138A>G	ENSP00000495202.1:p.Arg380Gly
ENST00000645662.1:c.*597A>G	ENSP00000495964.1:n.*597A>G
ENST00000645836.1:c.*912A>G	ENSP00000493915.1:n.*912A>G
ENST00000645899.1:c.1138A>G	ENSP00000496773.1:p.Arg380Gly
ENST00000645964.1:c.*1004A>G	ENSP00000494208.1:n.*1004A>G
ENST00000646104.1:c.*1606A>G	ENSP00000495475.1:n.*1606A>G
ENST00000646186.1:c.*810A>G	ENSP00000493806.1:n.*810A>G
ENST00000646286.1:c.*1031A>G	ENSP00000494291.1:n.*1031A>G
ENST00000646463.1:c.*903A>G	ENSP00000494541.1:n.*903A>G
ENST00000646528.1:c.*1854A>G	ENSP00000496553.1:n.*1854A>G
ENST00000646536.1:c.*428A>G	ENSP00000494801.1:n.*428A>G
ENST00000646624.1:c.1138A>G	ENSP00000494575.1:p.Arg380Gly
ENST00000646821.1:c.*428A>G	ENSP00000495257.1:n.*428A>G
ENST00000646842.1:n.582A>G
ENST00000646848.1:c.*353A>G	ENSP00000495831.1:n.*353A>G
ENST00000647186.1:c.1138A>G	ENSP00000494775.1:p.Arg380Gly
ENST00000647233.1:n.2118A>G
ENST00000647322.1:c.729A>G
ENST00000647418.1:c.*912A>G	ENSP00000493552.1:n.*912A>G
ENST00000647428.1:c.799A>G	ENSP00000495630.1:p.Arg267Gly
ENST00000651186.1:c.799A>G	ENSP00000498645.1:p.Arg267Gly
ENST00000366601.7:c.1138A>G	ENSP00000355560.3:p.Arg380Gly
ENST00000406207.4:c.1138A>G	ENSP00000384571.1:p.Arg380Gly
ENST00000472011.5:n.1190A>G
ENST00000543662.3:c.1291A>G	ENSP00000439170.1:p.Arg431Gly
NM_001079515.2:c.1138A>G	NP_001072983.1:p.Arg380Gly
NM_001287801.1:c.1291A>G	NP_001274730.1:p.Arg431Gly
NM_001287802.1:c.799A>G	NP_001274731.1:p.Arg267Gly
NM_003193.4:c.1138A>G	NP_003184.1:p.Arg380Gly
NM_003193.5:c.1138A>G MANE Select	NP_003184.1:p.Arg380Gly
NM_001079515.3:c.1138A>G	NP_001072983.1:p.Arg380Gly
NM_001287801.2:c.1291A>G	NP_001274730.1:p.Arg431Gly
NM_001287802.2:c.799A>G	NP_001274731.1:p.Arg267Gly