Canonical Allele Identifier: CA344944932

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602124G>T (hg19) ; chr1:g.235438809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438809G>T , CM000663.2:g.235438809G>T	GRCh38
NC_000001.10:g.235602124G>T , CM000663.1:g.235602124G>T	GRCh37
NC_000001.9:g.233668747G>T	NCBI36
NG_009230.1:g.76397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.968G>T	ENSP00000355560.4:p.Arg323Leu
ENST00000406207.5:c.1157G>T	ENSP00000384571.1:p.Arg386Leu
ENST00000472011.6:n.1881G>T
ENST00000543662.4:c.1310G>T	ENSP00000439170.1:p.Arg437Leu
ENST00000642339.1:c.*854G>T	ENSP00000495425.1:n.*854G>T
ENST00000642431.1:c.1734G>T
ENST00000642463.1:c.*1055G>T	ENSP00000495007.1:n.*1055G>T
ENST00000642503.1:c.*931G>T	ENSP00000494334.1:n.*931G>T
ENST00000642610.2:c.1157G>T MANE Select	ENSP00000494796.1:p.Arg386Leu
ENST00000642764.1:n.1988G>T
ENST00000643125.1:c.*172G>T	ENSP00000494102.1:n.*172G>T
ENST00000643142.1:c.*648G>T	ENSP00000494755.1:n.*648G>T
ENST00000643238.1:c.*177G>T	ENSP00000495916.1:n.*177G>T
ENST00000643410.1:c.*447G>T	ENSP00000495030.1:n.*447G>T
ENST00000643487.1:n.1844G>T
ENST00000643524.1:c.*742G>T	ENSP00000494026.1:n.*742G>T
ENST00000643615.1:c.*1116+1335G>T	ENSP00000496103.1:n.*1116+1335G>T
ENST00000643993.1:n.1293G>T
ENST00000643994.1:c.*1157G>T	ENSP00000496322.1:n.*1157G>T
ENST00000644037.1:c.*1367G>T	ENSP00000496408.1:n.*1367G>T
ENST00000644055.1:c.*1782G>T	ENSP00000496307.1:n.*1782G>T
ENST00000644126.1:n.2829G>T
ENST00000644217.1:c.1157G>T	ENSP00000494646.1:p.Arg386Leu
ENST00000644265.1:c.526G>T
ENST00000644578.1:c.971G>T	ENSP00000495953.1:p.Arg324Leu
ENST00000644604.1:c.1157G>T	ENSP00000495961.1:p.Arg386Leu
ENST00000644680.1:c.*1678G>T	ENSP00000496173.1:n.*1678G>T
ENST00000644838.1:c.*540G>T	ENSP00000495910.1:n.*540G>T
ENST00000644910.1:c.1764G>T
ENST00000645205.1:c.1157G>T	ENSP00000495823.1:p.Arg386Leu
ENST00000645351.1:c.1157G>T	ENSP00000494319.1:p.Arg386Leu
ENST00000645551.1:c.*874G>T	ENSP00000495928.1:n.*874G>T
ENST00000645578.1:c.*931G>T	ENSP00000496495.1:n.*931G>T
ENST00000645582.1:c.*987G>T	ENSP00000494980.1:n.*987G>T
ENST00000645655.1:c.1157G>T	ENSP00000495202.1:p.Arg386Leu
ENST00000645662.1:c.*616G>T	ENSP00000495964.1:n.*616G>T
ENST00000645836.1:c.*931G>T	ENSP00000493915.1:n.*931G>T
ENST00000645899.1:c.1157G>T	ENSP00000496773.1:p.Arg386Leu
ENST00000645964.1:c.*1023G>T	ENSP00000494208.1:n.*1023G>T
ENST00000646104.1:c.*1625G>T	ENSP00000495475.1:n.*1625G>T
ENST00000646186.1:c.*829G>T	ENSP00000493806.1:n.*829G>T
ENST00000646286.1:c.*1050G>T	ENSP00000494291.1:n.*1050G>T
ENST00000646463.1:c.*922G>T	ENSP00000494541.1:n.*922G>T
ENST00000646528.1:c.*1873G>T	ENSP00000496553.1:n.*1873G>T
ENST00000646536.1:c.*447G>T	ENSP00000494801.1:n.*447G>T
ENST00000646624.1:c.1157G>T	ENSP00000494575.1:p.Arg386Leu
ENST00000646821.1:c.*447G>T	ENSP00000495257.1:n.*447G>T
ENST00000646842.1:n.601G>T
ENST00000646848.1:c.*372G>T	ENSP00000495831.1:n.*372G>T
ENST00000647186.1:c.1157G>T	ENSP00000494775.1:p.Arg386Leu
ENST00000647233.1:n.2137G>T
ENST00000647322.1:c.748G>T
ENST00000647418.1:c.*931G>T	ENSP00000493552.1:n.*931G>T
ENST00000647428.1:c.818G>T	ENSP00000495630.1:p.Arg273Leu
ENST00000651186.1:c.818G>T	ENSP00000498645.1:p.Arg273Leu
ENST00000366601.7:c.1157G>T	ENSP00000355560.3:p.Arg386Leu
ENST00000406207.4:c.1157G>T	ENSP00000384571.1:p.Arg386Leu
ENST00000472011.5:n.1209G>T
ENST00000543662.3:c.1310G>T	ENSP00000439170.1:p.Arg437Leu
NM_001079515.2:c.1157G>T	NP_001072983.1:p.Arg386Leu
NM_001287801.1:c.1310G>T	NP_001274730.1:p.Arg437Leu
NM_001287802.1:c.818G>T	NP_001274731.1:p.Arg273Leu
NM_003193.4:c.1157G>T	NP_003184.1:p.Arg386Leu
NM_003193.5:c.1157G>T MANE Select	NP_003184.1:p.Arg386Leu
NM_001079515.3:c.1157G>T	NP_001072983.1:p.Arg386Leu
NM_001287801.2:c.1310G>T	NP_001274730.1:p.Arg437Leu
NM_001287802.2:c.818G>T	NP_001274731.1:p.Arg273Leu