Canonical Allele Identifier: CA423771907

Gene: TBCE

Linked Data

• COSMIC: COSM3934568 ; COSM3934569
• MyVariant Identifiers: chr1:g.235602230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438915C>T , CM000663.2:g.235438915C>T	GRCh38
NC_000001.10:g.235602230C>T , CM000663.1:g.235602230C>T	GRCh37
NC_000001.9:g.233668853C>T	NCBI36
NG_009230.1:g.76503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1074C>T	ENSP00000355560.4:p.Leu358=
ENST00000406207.5:c.1263C>T	ENSP00000384571.1:p.Leu421=
ENST00000472011.6:n.1987C>T
ENST00000543662.4:c.1416C>T	ENSP00000439170.1:p.Leu472=
ENST00000642339.1:c.*960C>T	ENSP00000495425.1:n.*960C>T
ENST00000642431.1:c.1840C>T
ENST00000642463.1:c.*1161C>T	ENSP00000495007.1:n.*1161C>T
ENST00000642503.1:c.*1037C>T	ENSP00000494334.1:n.*1037C>T
ENST00000642610.2:c.1263C>T MANE Select	ENSP00000494796.1:p.Leu421=
ENST00000642764.1:n.2094C>T
ENST00000643125.1:c.*278C>T	ENSP00000494102.1:n.*278C>T
ENST00000643142.1:c.*754C>T	ENSP00000494755.1:n.*754C>T
ENST00000643238.1:c.*283C>T	ENSP00000495916.1:n.*283C>T
ENST00000643410.1:c.*553C>T	ENSP00000495030.1:n.*553C>T
ENST00000643487.1:n.1950C>T
ENST00000643524.1:c.*848C>T	ENSP00000494026.1:n.*848C>T
ENST00000643615.1:c.*1116+1441C>T	ENSP00000496103.1:n.*1116+1441C>T
ENST00000643993.1:n.1399C>T
ENST00000643994.1:c.*1263C>T	ENSP00000496322.1:n.*1263C>T
ENST00000644037.1:c.*1473C>T	ENSP00000496408.1:n.*1473C>T
ENST00000644055.1:c.*1888C>T	ENSP00000496307.1:n.*1888C>T
ENST00000644126.1:n.2935C>T
ENST00000644217.1:c.1263C>T	ENSP00000494646.1:p.Leu421=
ENST00000644265.1:c.632C>T
ENST00000644578.1:c.1077C>T	ENSP00000495953.1:p.Leu359=
ENST00000644604.1:c.1263C>T	ENSP00000495961.1:p.Leu421=
ENST00000644680.1:c.*1784C>T	ENSP00000496173.1:n.*1784C>T
ENST00000644838.1:c.*646C>T	ENSP00000495910.1:n.*646C>T
ENST00000644910.1:c.1870C>T
ENST00000645205.1:c.1263C>T	ENSP00000495823.1:p.Leu421=
ENST00000645351.1:c.1263C>T	ENSP00000494319.1:p.Leu421=
ENST00000645551.1:c.*980C>T	ENSP00000495928.1:n.*980C>T
ENST00000645578.1:c.*1037C>T	ENSP00000496495.1:n.*1037C>T
ENST00000645582.1:c.*1093C>T	ENSP00000494980.1:n.*1093C>T
ENST00000645655.1:c.1263C>T	ENSP00000495202.1:p.Leu421=
ENST00000645836.1:c.*1037C>T	ENSP00000493915.1:n.*1037C>T
ENST00000645899.1:c.1263C>T	ENSP00000496773.1:p.Leu421=
ENST00000645964.1:c.*1129C>T	ENSP00000494208.1:n.*1129C>T
ENST00000646104.1:c.*1731C>T	ENSP00000495475.1:n.*1731C>T
ENST00000646186.1:c.*935C>T	ENSP00000493806.1:n.*935C>T
ENST00000646286.1:c.*1156C>T	ENSP00000494291.1:n.*1156C>T
ENST00000646463.1:c.*1028C>T	ENSP00000494541.1:n.*1028C>T
ENST00000646528.1:c.*1979C>T	ENSP00000496553.1:n.*1979C>T
ENST00000646536.1:c.*553C>T	ENSP00000494801.1:n.*553C>T
ENST00000646624.1:c.1263C>T	ENSP00000494575.1:p.Leu421=
ENST00000646821.1:c.*553C>T	ENSP00000495257.1:n.*553C>T
ENST00000646842.1:n.707C>T
ENST00000646848.1:c.*478C>T	ENSP00000495831.1:n.*478C>T
ENST00000647186.1:c.1263C>T	ENSP00000494775.1:p.Leu421=
ENST00000647233.1:n.2243C>T
ENST00000647322.1:c.854C>T
ENST00000647418.1:c.*1037C>T	ENSP00000493552.1:n.*1037C>T
ENST00000647428.1:c.924C>T	ENSP00000495630.1:p.Leu308=
ENST00000651186.1:c.924C>T	ENSP00000498645.1:p.Leu308=
ENST00000366601.7:c.1263C>T	ENSP00000355560.3:p.Leu421=
ENST00000406207.4:c.1263C>T	ENSP00000384571.1:p.Leu421=
ENST00000472011.5:n.1315C>T
ENST00000543662.3:c.1416C>T	ENSP00000439170.1:p.Leu472=
NM_001079515.2:c.1263C>T	NP_001072983.1:p.Leu421=
NM_001287801.1:c.1416C>T	NP_001274730.1:p.Leu472=
NM_001287802.1:c.924C>T	NP_001274731.1:p.Leu308=
NM_003193.4:c.1263C>T	NP_003184.1:p.Leu421=
NM_003193.5:c.1263C>T MANE Select	NP_003184.1:p.Leu421=
NM_001079515.3:c.1263C>T	NP_001072983.1:p.Leu421=
NM_001287801.2:c.1416C>T	NP_001274730.1:p.Leu472=
NM_001287802.2:c.924C>T	NP_001274731.1:p.Leu308=