Canonical Allele Identifier: CA344945160

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602151A>T (hg19) ; chr1:g.235438836A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438836A>T , CM000663.2:g.235438836A>T	GRCh38
NC_000001.10:g.235602151A>T , CM000663.1:g.235602151A>T	GRCh37
NC_000001.9:g.233668774A>T	NCBI36
NG_009230.1:g.76424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.995A>T	ENSP00000355560.4:p.Gln332Leu
ENST00000406207.5:c.1184A>T	ENSP00000384571.1:p.Gln395Leu
ENST00000472011.6:n.1908A>T
ENST00000543662.4:c.1337A>T	ENSP00000439170.1:p.Gln446Leu
ENST00000642339.1:c.*881A>T	ENSP00000495425.1:n.*881A>T
ENST00000642431.1:c.1761A>T
ENST00000642463.1:c.*1082A>T	ENSP00000495007.1:n.*1082A>T
ENST00000642503.1:c.*958A>T	ENSP00000494334.1:n.*958A>T
ENST00000642610.2:c.1184A>T MANE Select	ENSP00000494796.1:p.Gln395Leu
ENST00000642764.1:n.2015A>T
ENST00000643125.1:c.*199A>T	ENSP00000494102.1:n.*199A>T
ENST00000643142.1:c.*675A>T	ENSP00000494755.1:n.*675A>T
ENST00000643238.1:c.*204A>T	ENSP00000495916.1:n.*204A>T
ENST00000643410.1:c.*474A>T	ENSP00000495030.1:n.*474A>T
ENST00000643487.1:n.1871A>T
ENST00000643524.1:c.*769A>T	ENSP00000494026.1:n.*769A>T
ENST00000643615.1:c.*1116+1362A>T	ENSP00000496103.1:n.*1116+1362A>T
ENST00000643993.1:n.1320A>T
ENST00000643994.1:c.*1184A>T	ENSP00000496322.1:n.*1184A>T
ENST00000644037.1:c.*1394A>T	ENSP00000496408.1:n.*1394A>T
ENST00000644055.1:c.*1809A>T	ENSP00000496307.1:n.*1809A>T
ENST00000644126.1:n.2856A>T
ENST00000644217.1:c.1184A>T	ENSP00000494646.1:p.Gln395Leu
ENST00000644265.1:c.553A>T
ENST00000644578.1:c.998A>T	ENSP00000495953.1:p.Gln333Leu
ENST00000644604.1:c.1184A>T	ENSP00000495961.1:p.Gln395Leu
ENST00000644680.1:c.*1705A>T	ENSP00000496173.1:n.*1705A>T
ENST00000644838.1:c.*567A>T	ENSP00000495910.1:n.*567A>T
ENST00000644910.1:c.1791A>T
ENST00000645205.1:c.1184A>T	ENSP00000495823.1:p.Gln395Leu
ENST00000645351.1:c.1184A>T	ENSP00000494319.1:p.Gln395Leu
ENST00000645551.1:c.*901A>T	ENSP00000495928.1:n.*901A>T
ENST00000645578.1:c.*958A>T	ENSP00000496495.1:n.*958A>T
ENST00000645582.1:c.*1014A>T	ENSP00000494980.1:n.*1014A>T
ENST00000645655.1:c.1184A>T	ENSP00000495202.1:p.Gln395Leu
ENST00000645662.1:c.*643A>T	ENSP00000495964.1:n.*643A>T
ENST00000645836.1:c.*958A>T	ENSP00000493915.1:n.*958A>T
ENST00000645899.1:c.1184A>T	ENSP00000496773.1:p.Gln395Leu
ENST00000645964.1:c.*1050A>T	ENSP00000494208.1:n.*1050A>T
ENST00000646104.1:c.*1652A>T	ENSP00000495475.1:n.*1652A>T
ENST00000646186.1:c.*856A>T	ENSP00000493806.1:n.*856A>T
ENST00000646286.1:c.*1077A>T	ENSP00000494291.1:n.*1077A>T
ENST00000646463.1:c.*949A>T	ENSP00000494541.1:n.*949A>T
ENST00000646528.1:c.*1900A>T	ENSP00000496553.1:n.*1900A>T
ENST00000646536.1:c.*474A>T	ENSP00000494801.1:n.*474A>T
ENST00000646624.1:c.1184A>T	ENSP00000494575.1:p.Gln395Leu
ENST00000646821.1:c.*474A>T	ENSP00000495257.1:n.*474A>T
ENST00000646842.1:n.628A>T
ENST00000646848.1:c.*399A>T	ENSP00000495831.1:n.*399A>T
ENST00000647186.1:c.1184A>T	ENSP00000494775.1:p.Gln395Leu
ENST00000647233.1:n.2164A>T
ENST00000647322.1:c.775A>T
ENST00000647418.1:c.*958A>T	ENSP00000493552.1:n.*958A>T
ENST00000647428.1:c.845A>T	ENSP00000495630.1:p.Gln282Leu
ENST00000651186.1:c.845A>T	ENSP00000498645.1:p.Gln282Leu
ENST00000366601.7:c.1184A>T	ENSP00000355560.3:p.Gln395Leu
ENST00000406207.4:c.1184A>T	ENSP00000384571.1:p.Gln395Leu
ENST00000472011.5:n.1236A>T
ENST00000543662.3:c.1337A>T	ENSP00000439170.1:p.Gln446Leu
NM_001079515.2:c.1184A>T	NP_001072983.1:p.Gln395Leu
NM_001287801.1:c.1337A>T	NP_001274730.1:p.Gln446Leu
NM_001287802.1:c.845A>T	NP_001274731.1:p.Gln282Leu
NM_003193.4:c.1184A>T	NP_003184.1:p.Gln395Leu
NM_003193.5:c.1184A>T MANE Select	NP_003184.1:p.Gln395Leu
NM_001079515.3:c.1184A>T	NP_001072983.1:p.Gln395Leu
NM_001287801.2:c.1337A>T	NP_001274730.1:p.Gln446Leu
NM_001287802.2:c.845A>T	NP_001274731.1:p.Gln282Leu