Canonical Allele Identifier: CA344945328

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602170T>G (hg19) ; chr1:g.235438855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438855T>G , CM000663.2:g.235438855T>G	GRCh38
NC_000001.10:g.235602170T>G , CM000663.1:g.235602170T>G	GRCh37
NC_000001.9:g.233668793T>G	NCBI36
NG_009230.1:g.76443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1014T>G	ENSP00000355560.4:p.Asp338Glu
ENST00000406207.5:c.1203T>G	ENSP00000384571.1:p.Asp401Glu
ENST00000472011.6:n.1927T>G
ENST00000543662.4:c.1356T>G	ENSP00000439170.1:p.Asp452Glu
ENST00000642339.1:c.*900T>G	ENSP00000495425.1:n.*900T>G
ENST00000642431.1:c.1780T>G
ENST00000642463.1:c.*1101T>G	ENSP00000495007.1:n.*1101T>G
ENST00000642503.1:c.*977T>G	ENSP00000494334.1:n.*977T>G
ENST00000642610.2:c.1203T>G MANE Select	ENSP00000494796.1:p.Asp401Glu
ENST00000642764.1:n.2034T>G
ENST00000643125.1:c.*218T>G	ENSP00000494102.1:n.*218T>G
ENST00000643142.1:c.*694T>G	ENSP00000494755.1:n.*694T>G
ENST00000643238.1:c.*223T>G	ENSP00000495916.1:n.*223T>G
ENST00000643410.1:c.*493T>G	ENSP00000495030.1:n.*493T>G
ENST00000643487.1:n.1890T>G
ENST00000643524.1:c.*788T>G	ENSP00000494026.1:n.*788T>G
ENST00000643615.1:c.*1116+1381T>G	ENSP00000496103.1:n.*1116+1381T>G
ENST00000643993.1:n.1339T>G
ENST00000643994.1:c.*1203T>G	ENSP00000496322.1:n.*1203T>G
ENST00000644037.1:c.*1413T>G	ENSP00000496408.1:n.*1413T>G
ENST00000644055.1:c.*1828T>G	ENSP00000496307.1:n.*1828T>G
ENST00000644126.1:n.2875T>G
ENST00000644217.1:c.1203T>G	ENSP00000494646.1:p.Asp401Glu
ENST00000644265.1:c.572T>G
ENST00000644578.1:c.1017T>G	ENSP00000495953.1:p.Asp339Glu
ENST00000644604.1:c.1203T>G	ENSP00000495961.1:p.Asp401Glu
ENST00000644680.1:c.*1724T>G	ENSP00000496173.1:n.*1724T>G
ENST00000644838.1:c.*586T>G	ENSP00000495910.1:n.*586T>G
ENST00000644910.1:c.1810T>G
ENST00000645205.1:c.1203T>G	ENSP00000495823.1:p.Asp401Glu
ENST00000645351.1:c.1203T>G	ENSP00000494319.1:p.Asp401Glu
ENST00000645551.1:c.*920T>G	ENSP00000495928.1:n.*920T>G
ENST00000645578.1:c.*977T>G	ENSP00000496495.1:n.*977T>G
ENST00000645582.1:c.*1033T>G	ENSP00000494980.1:n.*1033T>G
ENST00000645655.1:c.1203T>G	ENSP00000495202.1:p.Asp401Glu
ENST00000645662.1:c.*662T>G	ENSP00000495964.1:n.*662T>G
ENST00000645836.1:c.*977T>G	ENSP00000493915.1:n.*977T>G
ENST00000645899.1:c.1203T>G	ENSP00000496773.1:p.Asp401Glu
ENST00000645964.1:c.*1069T>G	ENSP00000494208.1:n.*1069T>G
ENST00000646104.1:c.*1671T>G	ENSP00000495475.1:n.*1671T>G
ENST00000646186.1:c.*875T>G	ENSP00000493806.1:n.*875T>G
ENST00000646286.1:c.*1096T>G	ENSP00000494291.1:n.*1096T>G
ENST00000646463.1:c.*968T>G	ENSP00000494541.1:n.*968T>G
ENST00000646528.1:c.*1919T>G	ENSP00000496553.1:n.*1919T>G
ENST00000646536.1:c.*493T>G	ENSP00000494801.1:n.*493T>G
ENST00000646624.1:c.1203T>G	ENSP00000494575.1:p.Asp401Glu
ENST00000646821.1:c.*493T>G	ENSP00000495257.1:n.*493T>G
ENST00000646842.1:n.647T>G
ENST00000646848.1:c.*418T>G	ENSP00000495831.1:n.*418T>G
ENST00000647186.1:c.1203T>G	ENSP00000494775.1:p.Asp401Glu
ENST00000647233.1:n.2183T>G
ENST00000647322.1:c.794T>G
ENST00000647418.1:c.*977T>G	ENSP00000493552.1:n.*977T>G
ENST00000647428.1:c.864T>G	ENSP00000495630.1:p.Asp288Glu
ENST00000651186.1:c.864T>G	ENSP00000498645.1:p.Asp288Glu
ENST00000366601.7:c.1203T>G	ENSP00000355560.3:p.Asp401Glu
ENST00000406207.4:c.1203T>G	ENSP00000384571.1:p.Asp401Glu
ENST00000472011.5:n.1255T>G
ENST00000543662.3:c.1356T>G	ENSP00000439170.1:p.Asp452Glu
NM_001079515.2:c.1203T>G	NP_001072983.1:p.Asp401Glu
NM_001287801.1:c.1356T>G	NP_001274730.1:p.Asp452Glu
NM_001287802.1:c.864T>G	NP_001274731.1:p.Asp288Glu
NM_003193.4:c.1203T>G	NP_003184.1:p.Asp401Glu
NM_003193.5:c.1203T>G MANE Select	NP_003184.1:p.Asp401Glu
NM_001079515.3:c.1203T>G	NP_001072983.1:p.Asp401Glu
NM_001287801.2:c.1356T>G	NP_001274730.1:p.Asp452Glu
NM_001287802.2:c.864T>G	NP_001274731.1:p.Asp288Glu