Canonical Allele Identifier: CA344945075

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602146G>T (hg19) ; chr1:g.235438831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438831G>T , CM000663.2:g.235438831G>T	GRCh38
NC_000001.10:g.235602146G>T , CM000663.1:g.235602146G>T	GRCh37
NC_000001.9:g.233668769G>T	NCBI36
NG_009230.1:g.76419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.990G>T	ENSP00000355560.4:p.Trp330Cys
ENST00000406207.5:c.1179G>T	ENSP00000384571.1:p.Trp393Cys
ENST00000472011.6:n.1903G>T
ENST00000543662.4:c.1332G>T	ENSP00000439170.1:p.Trp444Cys
ENST00000642339.1:c.*876G>T	ENSP00000495425.1:n.*876G>T
ENST00000642431.1:c.1756G>T
ENST00000642463.1:c.*1077G>T	ENSP00000495007.1:n.*1077G>T
ENST00000642503.1:c.*953G>T	ENSP00000494334.1:n.*953G>T
ENST00000642610.2:c.1179G>T MANE Select	ENSP00000494796.1:p.Trp393Cys
ENST00000642764.1:n.2010G>T
ENST00000643125.1:c.*194G>T	ENSP00000494102.1:n.*194G>T
ENST00000643142.1:c.*670G>T	ENSP00000494755.1:n.*670G>T
ENST00000643238.1:c.*199G>T	ENSP00000495916.1:n.*199G>T
ENST00000643410.1:c.*469G>T	ENSP00000495030.1:n.*469G>T
ENST00000643487.1:n.1866G>T
ENST00000643524.1:c.*764G>T	ENSP00000494026.1:n.*764G>T
ENST00000643615.1:c.*1116+1357G>T	ENSP00000496103.1:n.*1116+1357G>T
ENST00000643993.1:n.1315G>T
ENST00000643994.1:c.*1179G>T	ENSP00000496322.1:n.*1179G>T
ENST00000644037.1:c.*1389G>T	ENSP00000496408.1:n.*1389G>T
ENST00000644055.1:c.*1804G>T	ENSP00000496307.1:n.*1804G>T
ENST00000644126.1:n.2851G>T
ENST00000644217.1:c.1179G>T	ENSP00000494646.1:p.Trp393Cys
ENST00000644265.1:c.548G>T
ENST00000644578.1:c.993G>T	ENSP00000495953.1:p.Trp331Cys
ENST00000644604.1:c.1179G>T	ENSP00000495961.1:p.Trp393Cys
ENST00000644680.1:c.*1700G>T	ENSP00000496173.1:n.*1700G>T
ENST00000644838.1:c.*562G>T	ENSP00000495910.1:n.*562G>T
ENST00000644910.1:c.1786G>T
ENST00000645205.1:c.1179G>T	ENSP00000495823.1:p.Trp393Cys
ENST00000645351.1:c.1179G>T	ENSP00000494319.1:p.Trp393Cys
ENST00000645551.1:c.*896G>T	ENSP00000495928.1:n.*896G>T
ENST00000645578.1:c.*953G>T	ENSP00000496495.1:n.*953G>T
ENST00000645582.1:c.*1009G>T	ENSP00000494980.1:n.*1009G>T
ENST00000645655.1:c.1179G>T	ENSP00000495202.1:p.Trp393Cys
ENST00000645662.1:c.*638G>T	ENSP00000495964.1:n.*638G>T
ENST00000645836.1:c.*953G>T	ENSP00000493915.1:n.*953G>T
ENST00000645899.1:c.1179G>T	ENSP00000496773.1:p.Trp393Cys
ENST00000645964.1:c.*1045G>T	ENSP00000494208.1:n.*1045G>T
ENST00000646104.1:c.*1647G>T	ENSP00000495475.1:n.*1647G>T
ENST00000646186.1:c.*851G>T	ENSP00000493806.1:n.*851G>T
ENST00000646286.1:c.*1072G>T	ENSP00000494291.1:n.*1072G>T
ENST00000646463.1:c.*944G>T	ENSP00000494541.1:n.*944G>T
ENST00000646528.1:c.*1895G>T	ENSP00000496553.1:n.*1895G>T
ENST00000646536.1:c.*469G>T	ENSP00000494801.1:n.*469G>T
ENST00000646624.1:c.1179G>T	ENSP00000494575.1:p.Trp393Cys
ENST00000646821.1:c.*469G>T	ENSP00000495257.1:n.*469G>T
ENST00000646842.1:n.623G>T
ENST00000646848.1:c.*394G>T	ENSP00000495831.1:n.*394G>T
ENST00000647186.1:c.1179G>T	ENSP00000494775.1:p.Trp393Cys
ENST00000647233.1:n.2159G>T
ENST00000647322.1:c.770G>T
ENST00000647418.1:c.*953G>T	ENSP00000493552.1:n.*953G>T
ENST00000647428.1:c.840G>T	ENSP00000495630.1:p.Trp280Cys
ENST00000651186.1:c.840G>T	ENSP00000498645.1:p.Trp280Cys
ENST00000366601.7:c.1179G>T	ENSP00000355560.3:p.Trp393Cys
ENST00000406207.4:c.1179G>T	ENSP00000384571.1:p.Trp393Cys
ENST00000472011.5:n.1231G>T
ENST00000543662.3:c.1332G>T	ENSP00000439170.1:p.Trp444Cys
NM_001079515.2:c.1179G>T	NP_001072983.1:p.Trp393Cys
NM_001287801.1:c.1332G>T	NP_001274730.1:p.Trp444Cys
NM_001287802.1:c.840G>T	NP_001274731.1:p.Trp280Cys
NM_003193.4:c.1179G>T	NP_003184.1:p.Trp393Cys
NM_003193.5:c.1179G>T MANE Select	NP_003184.1:p.Trp393Cys
NM_001079515.3:c.1179G>T	NP_001072983.1:p.Trp393Cys
NM_001287801.2:c.1332G>T	NP_001274730.1:p.Trp444Cys
NM_001287802.2:c.840G>T	NP_001274731.1:p.Trp280Cys