Canonical Allele Identifier: CA423771674

Gene: TBCE

Linked Data

• ClinVar Variation Id: 2769462
• ClinVar RCV Id: RCV003578756
• MyVariant Identifiers: chr1:g.235602131T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438816T>C , CM000663.2:g.235438816T>C	GRCh38
NC_000001.10:g.235602131T>C , CM000663.1:g.235602131T>C	GRCh37
NC_000001.9:g.233668754T>C	NCBI36
NG_009230.1:g.76404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.975T>C	ENSP00000355560.4:p.Ala325=
ENST00000406207.5:c.1164T>C	ENSP00000384571.1:p.Ala388=
ENST00000472011.6:n.1888T>C
ENST00000543662.4:c.1317T>C	ENSP00000439170.1:p.Ala439=
ENST00000642339.1:c.*861T>C	ENSP00000495425.1:n.*861T>C
ENST00000642431.1:c.1741T>C
ENST00000642463.1:c.*1062T>C	ENSP00000495007.1:n.*1062T>C
ENST00000642503.1:c.*938T>C	ENSP00000494334.1:n.*938T>C
ENST00000642610.2:c.1164T>C MANE Select	ENSP00000494796.1:p.Ala388=
ENST00000642764.1:n.1995T>C
ENST00000643125.1:c.*179T>C	ENSP00000494102.1:n.*179T>C
ENST00000643142.1:c.*655T>C	ENSP00000494755.1:n.*655T>C
ENST00000643238.1:c.*184T>C	ENSP00000495916.1:n.*184T>C
ENST00000643410.1:c.*454T>C	ENSP00000495030.1:n.*454T>C
ENST00000643487.1:n.1851T>C
ENST00000643524.1:c.*749T>C	ENSP00000494026.1:n.*749T>C
ENST00000643615.1:c.*1116+1342T>C	ENSP00000496103.1:n.*1116+1342T>C
ENST00000643993.1:n.1300T>C
ENST00000643994.1:c.*1164T>C	ENSP00000496322.1:n.*1164T>C
ENST00000644037.1:c.*1374T>C	ENSP00000496408.1:n.*1374T>C
ENST00000644055.1:c.*1789T>C	ENSP00000496307.1:n.*1789T>C
ENST00000644126.1:n.2836T>C
ENST00000644217.1:c.1164T>C	ENSP00000494646.1:p.Ala388=
ENST00000644265.1:c.533T>C
ENST00000644578.1:c.978T>C	ENSP00000495953.1:p.Ala326=
ENST00000644604.1:c.1164T>C	ENSP00000495961.1:p.Ala388=
ENST00000644680.1:c.*1685T>C	ENSP00000496173.1:n.*1685T>C
ENST00000644838.1:c.*547T>C	ENSP00000495910.1:n.*547T>C
ENST00000644910.1:c.1771T>C
ENST00000645205.1:c.1164T>C	ENSP00000495823.1:p.Ala388=
ENST00000645351.1:c.1164T>C	ENSP00000494319.1:p.Ala388=
ENST00000645551.1:c.*881T>C	ENSP00000495928.1:n.*881T>C
ENST00000645578.1:c.*938T>C	ENSP00000496495.1:n.*938T>C
ENST00000645582.1:c.*994T>C	ENSP00000494980.1:n.*994T>C
ENST00000645655.1:c.1164T>C	ENSP00000495202.1:p.Ala388=
ENST00000645662.1:c.*623T>C	ENSP00000495964.1:n.*623T>C
ENST00000645836.1:c.*938T>C	ENSP00000493915.1:n.*938T>C
ENST00000645899.1:c.1164T>C	ENSP00000496773.1:p.Ala388=
ENST00000645964.1:c.*1030T>C	ENSP00000494208.1:n.*1030T>C
ENST00000646104.1:c.*1632T>C	ENSP00000495475.1:n.*1632T>C
ENST00000646186.1:c.*836T>C	ENSP00000493806.1:n.*836T>C
ENST00000646286.1:c.*1057T>C	ENSP00000494291.1:n.*1057T>C
ENST00000646463.1:c.*929T>C	ENSP00000494541.1:n.*929T>C
ENST00000646528.1:c.*1880T>C	ENSP00000496553.1:n.*1880T>C
ENST00000646536.1:c.*454T>C	ENSP00000494801.1:n.*454T>C
ENST00000646624.1:c.1164T>C	ENSP00000494575.1:p.Ala388=
ENST00000646821.1:c.*454T>C	ENSP00000495257.1:n.*454T>C
ENST00000646842.1:n.608T>C
ENST00000646848.1:c.*379T>C	ENSP00000495831.1:n.*379T>C
ENST00000647186.1:c.1164T>C	ENSP00000494775.1:p.Ala388=
ENST00000647233.1:n.2144T>C
ENST00000647322.1:c.755T>C
ENST00000647418.1:c.*938T>C	ENSP00000493552.1:n.*938T>C
ENST00000647428.1:c.825T>C	ENSP00000495630.1:p.Ala275=
ENST00000651186.1:c.825T>C	ENSP00000498645.1:p.Ala275=
ENST00000366601.7:c.1164T>C	ENSP00000355560.3:p.Ala388=
ENST00000406207.4:c.1164T>C	ENSP00000384571.1:p.Ala388=
ENST00000472011.5:n.1216T>C
ENST00000543662.3:c.1317T>C	ENSP00000439170.1:p.Ala439=
NM_001079515.2:c.1164T>C	NP_001072983.1:p.Ala388=
NM_001287801.1:c.1317T>C	NP_001274730.1:p.Ala439=
NM_001287802.1:c.825T>C	NP_001274731.1:p.Ala275=
NM_003193.4:c.1164T>C	NP_003184.1:p.Ala388=
NM_003193.5:c.1164T>C MANE Select	NP_003184.1:p.Ala388=
NM_001079515.3:c.1164T>C	NP_001072983.1:p.Ala388=
NM_001287801.2:c.1317T>C	NP_001274730.1:p.Ala439=
NM_001287802.2:c.825T>C	NP_001274731.1:p.Ala275=