Canonical Allele Identifier: CA423771632

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602116T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438801T>A , CM000663.2:g.235438801T>A	GRCh38
NC_000001.10:g.235602116T>A , CM000663.1:g.235602116T>A	GRCh37
NC_000001.9:g.233668739T>A	NCBI36
NG_009230.1:g.76389T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.960T>A	ENSP00000355560.4:p.Leu320=
ENST00000406207.5:c.1149T>A	ENSP00000384571.1:p.Leu383=
ENST00000472011.6:n.1873T>A
ENST00000543662.4:c.1302T>A	ENSP00000439170.1:p.Leu434=
ENST00000642339.1:c.*846T>A	ENSP00000495425.1:n.*846T>A
ENST00000642431.1:c.1726T>A
ENST00000642463.1:c.*1047T>A	ENSP00000495007.1:n.*1047T>A
ENST00000642503.1:c.*923T>A	ENSP00000494334.1:n.*923T>A
ENST00000642610.2:c.1149T>A MANE Select	ENSP00000494796.1:p.Leu383=
ENST00000642764.1:n.1980T>A
ENST00000643125.1:c.*164T>A	ENSP00000494102.1:n.*164T>A
ENST00000643142.1:c.*640T>A	ENSP00000494755.1:n.*640T>A
ENST00000643238.1:c.*169T>A	ENSP00000495916.1:n.*169T>A
ENST00000643410.1:c.*439T>A	ENSP00000495030.1:n.*439T>A
ENST00000643487.1:n.1836T>A
ENST00000643524.1:c.*734T>A	ENSP00000494026.1:n.*734T>A
ENST00000643615.1:c.*1116+1327T>A	ENSP00000496103.1:n.*1116+1327T>A
ENST00000643993.1:n.1285T>A
ENST00000643994.1:c.*1149T>A	ENSP00000496322.1:n.*1149T>A
ENST00000644037.1:c.*1359T>A	ENSP00000496408.1:n.*1359T>A
ENST00000644055.1:c.*1774T>A	ENSP00000496307.1:n.*1774T>A
ENST00000644126.1:n.2821T>A
ENST00000644217.1:c.1149T>A	ENSP00000494646.1:p.Leu383=
ENST00000644265.1:c.518T>A
ENST00000644578.1:c.963T>A	ENSP00000495953.1:p.Leu321=
ENST00000644604.1:c.1149T>A	ENSP00000495961.1:p.Leu383=
ENST00000644680.1:c.*1670T>A	ENSP00000496173.1:n.*1670T>A
ENST00000644838.1:c.*532T>A	ENSP00000495910.1:n.*532T>A
ENST00000644910.1:c.1756T>A
ENST00000645205.1:c.1149T>A	ENSP00000495823.1:p.Leu383=
ENST00000645351.1:c.1149T>A	ENSP00000494319.1:p.Leu383=
ENST00000645551.1:c.*866T>A	ENSP00000495928.1:n.*866T>A
ENST00000645578.1:c.*923T>A	ENSP00000496495.1:n.*923T>A
ENST00000645582.1:c.*979T>A	ENSP00000494980.1:n.*979T>A
ENST00000645655.1:c.1149T>A	ENSP00000495202.1:p.Leu383=
ENST00000645662.1:c.*608T>A	ENSP00000495964.1:n.*608T>A
ENST00000645836.1:c.*923T>A	ENSP00000493915.1:n.*923T>A
ENST00000645899.1:c.1149T>A	ENSP00000496773.1:p.Leu383=
ENST00000645964.1:c.*1015T>A	ENSP00000494208.1:n.*1015T>A
ENST00000646104.1:c.*1617T>A	ENSP00000495475.1:n.*1617T>A
ENST00000646186.1:c.*821T>A	ENSP00000493806.1:n.*821T>A
ENST00000646286.1:c.*1042T>A	ENSP00000494291.1:n.*1042T>A
ENST00000646463.1:c.*914T>A	ENSP00000494541.1:n.*914T>A
ENST00000646528.1:c.*1865T>A	ENSP00000496553.1:n.*1865T>A
ENST00000646536.1:c.*439T>A	ENSP00000494801.1:n.*439T>A
ENST00000646624.1:c.1149T>A	ENSP00000494575.1:p.Leu383=
ENST00000646821.1:c.*439T>A	ENSP00000495257.1:n.*439T>A
ENST00000646842.1:n.593T>A
ENST00000646848.1:c.*364T>A	ENSP00000495831.1:n.*364T>A
ENST00000647186.1:c.1149T>A	ENSP00000494775.1:p.Leu383=
ENST00000647233.1:n.2129T>A
ENST00000647322.1:c.740T>A
ENST00000647418.1:c.*923T>A	ENSP00000493552.1:n.*923T>A
ENST00000647428.1:c.810T>A	ENSP00000495630.1:p.Leu270=
ENST00000651186.1:c.810T>A	ENSP00000498645.1:p.Leu270=
ENST00000366601.7:c.1149T>A	ENSP00000355560.3:p.Leu383=
ENST00000406207.4:c.1149T>A	ENSP00000384571.1:p.Leu383=
ENST00000472011.5:n.1201T>A
ENST00000543662.3:c.1302T>A	ENSP00000439170.1:p.Leu434=
NM_001079515.2:c.1149T>A	NP_001072983.1:p.Leu383=
NM_001287801.1:c.1302T>A	NP_001274730.1:p.Leu434=
NM_001287802.1:c.810T>A	NP_001274731.1:p.Leu270=
NM_003193.4:c.1149T>A	NP_003184.1:p.Leu383=
NM_003193.5:c.1149T>A MANE Select	NP_003184.1:p.Leu383=
NM_001079515.3:c.1149T>A	NP_001072983.1:p.Leu383=
NM_001287801.2:c.1302T>A	NP_001274730.1:p.Leu434=
NM_001287802.2:c.810T>A	NP_001274731.1:p.Leu270=