Canonical Allele Identifier: CA344944912

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602119C>A (hg19) ; chr1:g.235438804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438804C>A , CM000663.2:g.235438804C>A	GRCh38
NC_000001.10:g.235602119C>A , CM000663.1:g.235602119C>A	GRCh37
NC_000001.9:g.233668742C>A	NCBI36
NG_009230.1:g.76392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.963C>A	ENSP00000355560.4:p.Asp321Glu
ENST00000406207.5:c.1152C>A	ENSP00000384571.1:p.Asp384Glu
ENST00000472011.6:n.1876C>A
ENST00000543662.4:c.1305C>A	ENSP00000439170.1:p.Asp435Glu
ENST00000642339.1:c.*849C>A	ENSP00000495425.1:n.*849C>A
ENST00000642431.1:c.1729C>A
ENST00000642463.1:c.*1050C>A	ENSP00000495007.1:n.*1050C>A
ENST00000642503.1:c.*926C>A	ENSP00000494334.1:n.*926C>A
ENST00000642610.2:c.1152C>A MANE Select	ENSP00000494796.1:p.Asp384Glu
ENST00000642764.1:n.1983C>A
ENST00000643125.1:c.*167C>A	ENSP00000494102.1:n.*167C>A
ENST00000643142.1:c.*643C>A	ENSP00000494755.1:n.*643C>A
ENST00000643238.1:c.*172C>A	ENSP00000495916.1:n.*172C>A
ENST00000643410.1:c.*442C>A	ENSP00000495030.1:n.*442C>A
ENST00000643487.1:n.1839C>A
ENST00000643524.1:c.*737C>A	ENSP00000494026.1:n.*737C>A
ENST00000643615.1:c.*1116+1330C>A	ENSP00000496103.1:n.*1116+1330C>A
ENST00000643993.1:n.1288C>A
ENST00000643994.1:c.*1152C>A	ENSP00000496322.1:n.*1152C>A
ENST00000644037.1:c.*1362C>A	ENSP00000496408.1:n.*1362C>A
ENST00000644055.1:c.*1777C>A	ENSP00000496307.1:n.*1777C>A
ENST00000644126.1:n.2824C>A
ENST00000644217.1:c.1152C>A	ENSP00000494646.1:p.Asp384Glu
ENST00000644265.1:c.521C>A
ENST00000644578.1:c.966C>A	ENSP00000495953.1:p.Asp322Glu
ENST00000644604.1:c.1152C>A	ENSP00000495961.1:p.Asp384Glu
ENST00000644680.1:c.*1673C>A	ENSP00000496173.1:n.*1673C>A
ENST00000644838.1:c.*535C>A	ENSP00000495910.1:n.*535C>A
ENST00000644910.1:c.1759C>A
ENST00000645205.1:c.1152C>A	ENSP00000495823.1:p.Asp384Glu
ENST00000645351.1:c.1152C>A	ENSP00000494319.1:p.Asp384Glu
ENST00000645551.1:c.*869C>A	ENSP00000495928.1:n.*869C>A
ENST00000645578.1:c.*926C>A	ENSP00000496495.1:n.*926C>A
ENST00000645582.1:c.*982C>A	ENSP00000494980.1:n.*982C>A
ENST00000645655.1:c.1152C>A	ENSP00000495202.1:p.Asp384Glu
ENST00000645662.1:c.*611C>A	ENSP00000495964.1:n.*611C>A
ENST00000645836.1:c.*926C>A	ENSP00000493915.1:n.*926C>A
ENST00000645899.1:c.1152C>A	ENSP00000496773.1:p.Asp384Glu
ENST00000645964.1:c.*1018C>A	ENSP00000494208.1:n.*1018C>A
ENST00000646104.1:c.*1620C>A	ENSP00000495475.1:n.*1620C>A
ENST00000646186.1:c.*824C>A	ENSP00000493806.1:n.*824C>A
ENST00000646286.1:c.*1045C>A	ENSP00000494291.1:n.*1045C>A
ENST00000646463.1:c.*917C>A	ENSP00000494541.1:n.*917C>A
ENST00000646528.1:c.*1868C>A	ENSP00000496553.1:n.*1868C>A
ENST00000646536.1:c.*442C>A	ENSP00000494801.1:n.*442C>A
ENST00000646624.1:c.1152C>A	ENSP00000494575.1:p.Asp384Glu
ENST00000646821.1:c.*442C>A	ENSP00000495257.1:n.*442C>A
ENST00000646842.1:n.596C>A
ENST00000646848.1:c.*367C>A	ENSP00000495831.1:n.*367C>A
ENST00000647186.1:c.1152C>A	ENSP00000494775.1:p.Asp384Glu
ENST00000647233.1:n.2132C>A
ENST00000647322.1:c.743C>A
ENST00000647418.1:c.*926C>A	ENSP00000493552.1:n.*926C>A
ENST00000647428.1:c.813C>A	ENSP00000495630.1:p.Asp271Glu
ENST00000651186.1:c.813C>A	ENSP00000498645.1:p.Asp271Glu
ENST00000366601.7:c.1152C>A	ENSP00000355560.3:p.Asp384Glu
ENST00000406207.4:c.1152C>A	ENSP00000384571.1:p.Asp384Glu
ENST00000472011.5:n.1204C>A
ENST00000543662.3:c.1305C>A	ENSP00000439170.1:p.Asp435Glu
NM_001079515.2:c.1152C>A	NP_001072983.1:p.Asp384Glu
NM_001287801.1:c.1305C>A	NP_001274730.1:p.Asp435Glu
NM_001287802.1:c.813C>A	NP_001274731.1:p.Asp271Glu
NM_003193.4:c.1152C>A	NP_003184.1:p.Asp384Glu
NM_003193.5:c.1152C>A MANE Select	NP_003184.1:p.Asp384Glu
NM_001079515.3:c.1152C>A	NP_001072983.1:p.Asp384Glu
NM_001287801.2:c.1305C>A	NP_001274730.1:p.Asp435Glu
NM_001287802.2:c.813C>A	NP_001274731.1:p.Asp271Glu