Canonical Allele Identifier: CA344945002

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602136G>T (hg19) ; chr1:g.235438821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438821G>T , CM000663.2:g.235438821G>T	GRCh38
NC_000001.10:g.235602136G>T , CM000663.1:g.235602136G>T	GRCh37
NC_000001.9:g.233668759G>T	NCBI36
NG_009230.1:g.76409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.980G>T	ENSP00000355560.4:p.Gly327Val
ENST00000406207.5:c.1169G>T	ENSP00000384571.1:p.Gly390Val
ENST00000472011.6:n.1893G>T
ENST00000543662.4:c.1322G>T	ENSP00000439170.1:p.Gly441Val
ENST00000642339.1:c.*866G>T	ENSP00000495425.1:n.*866G>T
ENST00000642431.1:c.1746G>T
ENST00000642463.1:c.*1067G>T	ENSP00000495007.1:n.*1067G>T
ENST00000642503.1:c.*943G>T	ENSP00000494334.1:n.*943G>T
ENST00000642610.2:c.1169G>T MANE Select	ENSP00000494796.1:p.Gly390Val
ENST00000642764.1:n.2000G>T
ENST00000643125.1:c.*184G>T	ENSP00000494102.1:n.*184G>T
ENST00000643142.1:c.*660G>T	ENSP00000494755.1:n.*660G>T
ENST00000643238.1:c.*189G>T	ENSP00000495916.1:n.*189G>T
ENST00000643410.1:c.*459G>T	ENSP00000495030.1:n.*459G>T
ENST00000643487.1:n.1856G>T
ENST00000643524.1:c.*754G>T	ENSP00000494026.1:n.*754G>T
ENST00000643615.1:c.*1116+1347G>T	ENSP00000496103.1:n.*1116+1347G>T
ENST00000643993.1:n.1305G>T
ENST00000643994.1:c.*1169G>T	ENSP00000496322.1:n.*1169G>T
ENST00000644037.1:c.*1379G>T	ENSP00000496408.1:n.*1379G>T
ENST00000644055.1:c.*1794G>T	ENSP00000496307.1:n.*1794G>T
ENST00000644126.1:n.2841G>T
ENST00000644217.1:c.1169G>T	ENSP00000494646.1:p.Gly390Val
ENST00000644265.1:c.538G>T
ENST00000644578.1:c.983G>T	ENSP00000495953.1:p.Gly328Val
ENST00000644604.1:c.1169G>T	ENSP00000495961.1:p.Gly390Val
ENST00000644680.1:c.*1690G>T	ENSP00000496173.1:n.*1690G>T
ENST00000644838.1:c.*552G>T	ENSP00000495910.1:n.*552G>T
ENST00000644910.1:c.1776G>T
ENST00000645205.1:c.1169G>T	ENSP00000495823.1:p.Gly390Val
ENST00000645351.1:c.1169G>T	ENSP00000494319.1:p.Gly390Val
ENST00000645551.1:c.*886G>T	ENSP00000495928.1:n.*886G>T
ENST00000645578.1:c.*943G>T	ENSP00000496495.1:n.*943G>T
ENST00000645582.1:c.*999G>T	ENSP00000494980.1:n.*999G>T
ENST00000645655.1:c.1169G>T	ENSP00000495202.1:p.Gly390Val
ENST00000645662.1:c.*628G>T	ENSP00000495964.1:n.*628G>T
ENST00000645836.1:c.*943G>T	ENSP00000493915.1:n.*943G>T
ENST00000645899.1:c.1169G>T	ENSP00000496773.1:p.Gly390Val
ENST00000645964.1:c.*1035G>T	ENSP00000494208.1:n.*1035G>T
ENST00000646104.1:c.*1637G>T	ENSP00000495475.1:n.*1637G>T
ENST00000646186.1:c.*841G>T	ENSP00000493806.1:n.*841G>T
ENST00000646286.1:c.*1062G>T	ENSP00000494291.1:n.*1062G>T
ENST00000646463.1:c.*934G>T	ENSP00000494541.1:n.*934G>T
ENST00000646528.1:c.*1885G>T	ENSP00000496553.1:n.*1885G>T
ENST00000646536.1:c.*459G>T	ENSP00000494801.1:n.*459G>T
ENST00000646624.1:c.1169G>T	ENSP00000494575.1:p.Gly390Val
ENST00000646821.1:c.*459G>T	ENSP00000495257.1:n.*459G>T
ENST00000646842.1:n.613G>T
ENST00000646848.1:c.*384G>T	ENSP00000495831.1:n.*384G>T
ENST00000647186.1:c.1169G>T	ENSP00000494775.1:p.Gly390Val
ENST00000647233.1:n.2149G>T
ENST00000647322.1:c.760G>T
ENST00000647418.1:c.*943G>T	ENSP00000493552.1:n.*943G>T
ENST00000647428.1:c.830G>T	ENSP00000495630.1:p.Gly277Val
ENST00000651186.1:c.830G>T	ENSP00000498645.1:p.Gly277Val
ENST00000366601.7:c.1169G>T	ENSP00000355560.3:p.Gly390Val
ENST00000406207.4:c.1169G>T	ENSP00000384571.1:p.Gly390Val
ENST00000472011.5:n.1221G>T
ENST00000543662.3:c.1322G>T	ENSP00000439170.1:p.Gly441Val
NM_001079515.2:c.1169G>T	NP_001072983.1:p.Gly390Val
NM_001287801.1:c.1322G>T	NP_001274730.1:p.Gly441Val
NM_001287802.1:c.830G>T	NP_001274731.1:p.Gly277Val
NM_003193.4:c.1169G>T	NP_003184.1:p.Gly390Val
NM_003193.5:c.1169G>T MANE Select	NP_003184.1:p.Gly390Val
NM_001079515.3:c.1169G>T	NP_001072983.1:p.Gly390Val
NM_001287801.2:c.1322G>T	NP_001274730.1:p.Gly441Val
NM_001287802.2:c.830G>T	NP_001274731.1:p.Gly277Val