Canonical Allele Identifier: CA344945832

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602216A>T (hg19) ; chr1:g.235438901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438901A>T , CM000663.2:g.235438901A>T	GRCh38
NC_000001.10:g.235602216A>T , CM000663.1:g.235602216A>T	GRCh37
NC_000001.9:g.233668839A>T	NCBI36
NG_009230.1:g.76489A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1060A>T	ENSP00000355560.4:p.Arg354Ter
ENST00000406207.5:c.1249A>T	ENSP00000384571.1:p.Arg417Ter
ENST00000472011.6:n.1973A>T
ENST00000543662.4:c.1402A>T	ENSP00000439170.1:p.Arg468Ter
ENST00000642339.1:c.*946A>T	ENSP00000495425.1:n.*946A>T
ENST00000642431.1:c.1826A>T
ENST00000642463.1:c.*1147A>T	ENSP00000495007.1:n.*1147A>T
ENST00000642503.1:c.*1023A>T	ENSP00000494334.1:n.*1023A>T
ENST00000642610.2:c.1249A>T MANE Select	ENSP00000494796.1:p.Arg417Ter
ENST00000642764.1:n.2080A>T
ENST00000643125.1:c.*264A>T	ENSP00000494102.1:n.*264A>T
ENST00000643142.1:c.*740A>T	ENSP00000494755.1:n.*740A>T
ENST00000643238.1:c.*269A>T	ENSP00000495916.1:n.*269A>T
ENST00000643410.1:c.*539A>T	ENSP00000495030.1:n.*539A>T
ENST00000643487.1:n.1936A>T
ENST00000643524.1:c.*834A>T	ENSP00000494026.1:n.*834A>T
ENST00000643615.1:c.*1116+1427A>T	ENSP00000496103.1:n.*1116+1427A>T
ENST00000643993.1:n.1385A>T
ENST00000643994.1:c.*1249A>T	ENSP00000496322.1:n.*1249A>T
ENST00000644037.1:c.*1459A>T	ENSP00000496408.1:n.*1459A>T
ENST00000644055.1:c.*1874A>T	ENSP00000496307.1:n.*1874A>T
ENST00000644126.1:n.2921A>T
ENST00000644217.1:c.1249A>T	ENSP00000494646.1:p.Arg417Ter
ENST00000644265.1:c.618A>T
ENST00000644578.1:c.1063A>T	ENSP00000495953.1:p.Arg355Ter
ENST00000644604.1:c.1249A>T	ENSP00000495961.1:p.Arg417Ter
ENST00000644680.1:c.*1770A>T	ENSP00000496173.1:n.*1770A>T
ENST00000644838.1:c.*632A>T	ENSP00000495910.1:n.*632A>T
ENST00000644910.1:c.1856A>T
ENST00000645205.1:c.1249A>T	ENSP00000495823.1:p.Arg417Ter
ENST00000645351.1:c.1249A>T	ENSP00000494319.1:p.Arg417Ter
ENST00000645551.1:c.*966A>T	ENSP00000495928.1:n.*966A>T
ENST00000645578.1:c.*1023A>T	ENSP00000496495.1:n.*1023A>T
ENST00000645582.1:c.*1079A>T	ENSP00000494980.1:n.*1079A>T
ENST00000645655.1:c.1249A>T	ENSP00000495202.1:p.Arg417Ter
ENST00000645662.1:c.*708A>T	ENSP00000495964.1:n.*708A>T
ENST00000645836.1:c.*1023A>T	ENSP00000493915.1:n.*1023A>T
ENST00000645899.1:c.1249A>T	ENSP00000496773.1:p.Arg417Ter
ENST00000645964.1:c.*1115A>T	ENSP00000494208.1:n.*1115A>T
ENST00000646104.1:c.*1717A>T	ENSP00000495475.1:n.*1717A>T
ENST00000646186.1:c.*921A>T	ENSP00000493806.1:n.*921A>T
ENST00000646286.1:c.*1142A>T	ENSP00000494291.1:n.*1142A>T
ENST00000646463.1:c.*1014A>T	ENSP00000494541.1:n.*1014A>T
ENST00000646528.1:c.*1965A>T	ENSP00000496553.1:n.*1965A>T
ENST00000646536.1:c.*539A>T	ENSP00000494801.1:n.*539A>T
ENST00000646624.1:c.1249A>T	ENSP00000494575.1:p.Arg417Ter
ENST00000646821.1:c.*539A>T	ENSP00000495257.1:n.*539A>T
ENST00000646842.1:n.693A>T
ENST00000646848.1:c.*464A>T	ENSP00000495831.1:n.*464A>T
ENST00000647186.1:c.1249A>T	ENSP00000494775.1:p.Arg417Ter
ENST00000647233.1:n.2229A>T
ENST00000647322.1:c.840A>T
ENST00000647418.1:c.*1023A>T	ENSP00000493552.1:n.*1023A>T
ENST00000647428.1:c.910A>T	ENSP00000495630.1:p.Arg304Ter
ENST00000651186.1:c.910A>T	ENSP00000498645.1:p.Arg304Ter
ENST00000366601.7:c.1249A>T	ENSP00000355560.3:p.Arg417Ter
ENST00000406207.4:c.1249A>T	ENSP00000384571.1:p.Arg417Ter
ENST00000472011.5:n.1301A>T
ENST00000543662.3:c.1402A>T	ENSP00000439170.1:p.Arg468Ter
NM_001079515.2:c.1249A>T	NP_001072983.1:p.Arg417Ter
NM_001287801.1:c.1402A>T	NP_001274730.1:p.Arg468Ter
NM_001287802.1:c.910A>T	NP_001274731.1:p.Arg304Ter
NM_003193.4:c.1249A>T	NP_003184.1:p.Arg417Ter
NM_003193.5:c.1249A>T MANE Select	NP_003184.1:p.Arg417Ter
NM_001079515.3:c.1249A>T	NP_001072983.1:p.Arg417Ter
NM_001287801.2:c.1402A>T	NP_001274730.1:p.Arg468Ter
NM_001287802.2:c.910A>T	NP_001274731.1:p.Arg304Ter