Canonical Allele Identifier: CA39592628

Gene: TBCE

Linked Data

• dbSNP Id: rs534429345
• MyVariant Identifiers: chr1:g.235602087C>A (hg19) ; chr1:g.235438772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438772C>A , CM000663.2:g.235438772C>A	GRCh38
NC_000001.10:g.235602087C>A , CM000663.1:g.235602087C>A	GRCh37
NC_000001.9:g.233668710C>A	NCBI36
NG_009230.1:g.76360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.931C>A	ENSP00000355560.4:p.Leu311Ile
ENST00000406207.5:c.1120C>A	ENSP00000384571.1:p.Leu374Ile
ENST00000472011.6:n.1844C>A
ENST00000543662.4:c.1273C>A	ENSP00000439170.1:p.Leu425Ile
ENST00000642339.1:c.*817C>A	ENSP00000495425.1:n.*817C>A
ENST00000642431.1:c.1697C>A
ENST00000642463.1:c.*1018C>A	ENSP00000495007.1:n.*1018C>A
ENST00000642503.1:c.*894C>A	ENSP00000494334.1:n.*894C>A
ENST00000642610.2:c.1120C>A MANE Select	ENSP00000494796.1:p.Leu374Ile
ENST00000642764.1:n.1951C>A
ENST00000643125.1:c.*135C>A	ENSP00000494102.1:n.*135C>A
ENST00000643142.1:c.*611C>A	ENSP00000494755.1:n.*611C>A
ENST00000643238.1:c.*140C>A	ENSP00000495916.1:n.*140C>A
ENST00000643410.1:c.*410C>A	ENSP00000495030.1:n.*410C>A
ENST00000643487.1:n.1807C>A
ENST00000643524.1:c.*705C>A	ENSP00000494026.1:n.*705C>A
ENST00000643615.1:c.*1116+1298C>A	ENSP00000496103.1:n.*1116+1298C>A
ENST00000643993.1:n.1256C>A
ENST00000643994.1:c.*1120C>A	ENSP00000496322.1:n.*1120C>A
ENST00000644037.1:c.*1330C>A	ENSP00000496408.1:n.*1330C>A
ENST00000644055.1:c.*1745C>A	ENSP00000496307.1:n.*1745C>A
ENST00000644126.1:n.2792C>A
ENST00000644217.1:c.1120C>A	ENSP00000494646.1:p.Leu374Ile
ENST00000644265.1:c.489C>A
ENST00000644578.1:c.934C>A	ENSP00000495953.1:p.Leu312Ile
ENST00000644604.1:c.1120C>A	ENSP00000495961.1:p.Leu374Ile
ENST00000644680.1:c.*1641C>A	ENSP00000496173.1:n.*1641C>A
ENST00000644838.1:c.*503C>A	ENSP00000495910.1:n.*503C>A
ENST00000644910.1:c.1727C>A
ENST00000645205.1:c.1120C>A	ENSP00000495823.1:p.Leu374Ile
ENST00000645351.1:c.1120C>A	ENSP00000494319.1:p.Leu374Ile
ENST00000645551.1:c.*837C>A	ENSP00000495928.1:n.*837C>A
ENST00000645578.1:c.*894C>A	ENSP00000496495.1:n.*894C>A
ENST00000645582.1:c.*950C>A	ENSP00000494980.1:n.*950C>A
ENST00000645655.1:c.1120C>A	ENSP00000495202.1:p.Leu374Ile
ENST00000645662.1:c.*579C>A	ENSP00000495964.1:n.*579C>A
ENST00000645836.1:c.*894C>A	ENSP00000493915.1:n.*894C>A
ENST00000645899.1:c.1120C>A	ENSP00000496773.1:p.Leu374Ile
ENST00000645964.1:c.*986C>A	ENSP00000494208.1:n.*986C>A
ENST00000646104.1:c.*1588C>A	ENSP00000495475.1:n.*1588C>A
ENST00000646186.1:c.*792C>A	ENSP00000493806.1:n.*792C>A
ENST00000646286.1:c.*1013C>A	ENSP00000494291.1:n.*1013C>A
ENST00000646463.1:c.*885C>A	ENSP00000494541.1:n.*885C>A
ENST00000646528.1:c.*1836C>A	ENSP00000496553.1:n.*1836C>A
ENST00000646536.1:c.*410C>A	ENSP00000494801.1:n.*410C>A
ENST00000646624.1:c.1120C>A	ENSP00000494575.1:p.Leu374Ile
ENST00000646821.1:c.*410C>A	ENSP00000495257.1:n.*410C>A
ENST00000646842.1:n.564C>A
ENST00000646848.1:c.*335C>A	ENSP00000495831.1:n.*335C>A
ENST00000647186.1:c.1120C>A	ENSP00000494775.1:p.Leu374Ile
ENST00000647233.1:n.2100C>A
ENST00000647322.1:c.711C>A
ENST00000647418.1:c.*894C>A	ENSP00000493552.1:n.*894C>A
ENST00000647428.1:c.781C>A	ENSP00000495630.1:p.Leu261Ile
ENST00000651186.1:c.781C>A	ENSP00000498645.1:p.Leu261Ile
ENST00000366601.7:c.1120C>A	ENSP00000355560.3:p.Leu374Ile
ENST00000406207.4:c.1120C>A	ENSP00000384571.1:p.Leu374Ile
ENST00000472011.5:n.1172C>A
ENST00000543662.3:c.1273C>A	ENSP00000439170.1:p.Leu425Ile
NM_001079515.2:c.1120C>A	NP_001072983.1:p.Leu374Ile
NM_001287801.1:c.1273C>A	NP_001274730.1:p.Leu425Ile
NM_001287802.1:c.781C>A	NP_001274731.1:p.Leu261Ile
NM_003193.4:c.1120C>A	NP_003184.1:p.Leu374Ile
NM_003193.5:c.1120C>A MANE Select	NP_003184.1:p.Leu374Ile
NM_001079515.3:c.1120C>A	NP_001072983.1:p.Leu374Ile
NM_001287801.2:c.1273C>A	NP_001274730.1:p.Leu425Ile
NM_001287802.2:c.781C>A	NP_001274731.1:p.Leu261Ile