Canonical Allele Identifier: CA344945748

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602210C>T (hg19) ; chr1:g.235438895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438895C>T , CM000663.2:g.235438895C>T	GRCh38
NC_000001.10:g.235602210C>T , CM000663.1:g.235602210C>T	GRCh37
NC_000001.9:g.233668833C>T	NCBI36
NG_009230.1:g.76483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1054C>T	ENSP00000355560.4:p.His352Tyr
ENST00000406207.5:c.1243C>T	ENSP00000384571.1:p.His415Tyr
ENST00000472011.6:n.1967C>T
ENST00000543662.4:c.1396C>T	ENSP00000439170.1:p.His466Tyr
ENST00000642339.1:c.*940C>T	ENSP00000495425.1:n.*940C>T
ENST00000642431.1:c.1820C>T
ENST00000642463.1:c.*1141C>T	ENSP00000495007.1:n.*1141C>T
ENST00000642503.1:c.*1017C>T	ENSP00000494334.1:n.*1017C>T
ENST00000642610.2:c.1243C>T MANE Select	ENSP00000494796.1:p.His415Tyr
ENST00000642764.1:n.2074C>T
ENST00000643125.1:c.*258C>T	ENSP00000494102.1:n.*258C>T
ENST00000643142.1:c.*734C>T	ENSP00000494755.1:n.*734C>T
ENST00000643238.1:c.*263C>T	ENSP00000495916.1:n.*263C>T
ENST00000643410.1:c.*533C>T	ENSP00000495030.1:n.*533C>T
ENST00000643487.1:n.1930C>T
ENST00000643524.1:c.*828C>T	ENSP00000494026.1:n.*828C>T
ENST00000643615.1:c.*1116+1421C>T	ENSP00000496103.1:n.*1116+1421C>T
ENST00000643993.1:n.1379C>T
ENST00000643994.1:c.*1243C>T	ENSP00000496322.1:n.*1243C>T
ENST00000644037.1:c.*1453C>T	ENSP00000496408.1:n.*1453C>T
ENST00000644055.1:c.*1868C>T	ENSP00000496307.1:n.*1868C>T
ENST00000644126.1:n.2915C>T
ENST00000644217.1:c.1243C>T	ENSP00000494646.1:p.His415Tyr
ENST00000644265.1:c.612C>T
ENST00000644578.1:c.1057C>T	ENSP00000495953.1:p.His353Tyr
ENST00000644604.1:c.1243C>T	ENSP00000495961.1:p.His415Tyr
ENST00000644680.1:c.*1764C>T	ENSP00000496173.1:n.*1764C>T
ENST00000644838.1:c.*626C>T	ENSP00000495910.1:n.*626C>T
ENST00000644910.1:c.1850C>T
ENST00000645205.1:c.1243C>T	ENSP00000495823.1:p.His415Tyr
ENST00000645351.1:c.1243C>T	ENSP00000494319.1:p.His415Tyr
ENST00000645551.1:c.*960C>T	ENSP00000495928.1:n.*960C>T
ENST00000645578.1:c.*1017C>T	ENSP00000496495.1:n.*1017C>T
ENST00000645582.1:c.*1073C>T	ENSP00000494980.1:n.*1073C>T
ENST00000645655.1:c.1243C>T	ENSP00000495202.1:p.His415Tyr
ENST00000645662.1:c.*702C>T	ENSP00000495964.1:n.*702C>T
ENST00000645836.1:c.*1017C>T	ENSP00000493915.1:n.*1017C>T
ENST00000645899.1:c.1243C>T	ENSP00000496773.1:p.His415Tyr
ENST00000645964.1:c.*1109C>T	ENSP00000494208.1:n.*1109C>T
ENST00000646104.1:c.*1711C>T	ENSP00000495475.1:n.*1711C>T
ENST00000646186.1:c.*915C>T	ENSP00000493806.1:n.*915C>T
ENST00000646286.1:c.*1136C>T	ENSP00000494291.1:n.*1136C>T
ENST00000646463.1:c.*1008C>T	ENSP00000494541.1:n.*1008C>T
ENST00000646528.1:c.*1959C>T	ENSP00000496553.1:n.*1959C>T
ENST00000646536.1:c.*533C>T	ENSP00000494801.1:n.*533C>T
ENST00000646624.1:c.1243C>T	ENSP00000494575.1:p.His415Tyr
ENST00000646821.1:c.*533C>T	ENSP00000495257.1:n.*533C>T
ENST00000646842.1:n.687C>T
ENST00000646848.1:c.*458C>T	ENSP00000495831.1:n.*458C>T
ENST00000647186.1:c.1243C>T	ENSP00000494775.1:p.His415Tyr
ENST00000647233.1:n.2223C>T
ENST00000647322.1:c.834C>T
ENST00000647418.1:c.*1017C>T	ENSP00000493552.1:n.*1017C>T
ENST00000647428.1:c.904C>T	ENSP00000495630.1:p.His302Tyr
ENST00000651186.1:c.904C>T	ENSP00000498645.1:p.His302Tyr
ENST00000366601.7:c.1243C>T	ENSP00000355560.3:p.His415Tyr
ENST00000406207.4:c.1243C>T	ENSP00000384571.1:p.His415Tyr
ENST00000472011.5:n.1295C>T
ENST00000543662.3:c.1396C>T	ENSP00000439170.1:p.His466Tyr
NM_001079515.2:c.1243C>T	NP_001072983.1:p.His415Tyr
NM_001287801.1:c.1396C>T	NP_001274730.1:p.His466Tyr
NM_001287802.1:c.904C>T	NP_001274731.1:p.His302Tyr
NM_003193.4:c.1243C>T	NP_003184.1:p.His415Tyr
NM_003193.5:c.1243C>T MANE Select	NP_003184.1:p.His415Tyr
NM_001079515.3:c.1243C>T	NP_001072983.1:p.His415Tyr
NM_001287801.2:c.1396C>T	NP_001274730.1:p.His466Tyr
NM_001287802.2:c.904C>T	NP_001274731.1:p.His302Tyr