Canonical Allele Identifier: CA344944900

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602117G>C (hg19) ; chr1:g.235438802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438802G>C , CM000663.2:g.235438802G>C	GRCh38
NC_000001.10:g.235602117G>C , CM000663.1:g.235602117G>C	GRCh37
NC_000001.9:g.233668740G>C	NCBI36
NG_009230.1:g.76390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.961G>C	ENSP00000355560.4:p.Asp321His
ENST00000406207.5:c.1150G>C	ENSP00000384571.1:p.Asp384His
ENST00000472011.6:n.1874G>C
ENST00000543662.4:c.1303G>C	ENSP00000439170.1:p.Asp435His
ENST00000642339.1:c.*847G>C	ENSP00000495425.1:n.*847G>C
ENST00000642431.1:c.1727G>C
ENST00000642463.1:c.*1048G>C	ENSP00000495007.1:n.*1048G>C
ENST00000642503.1:c.*924G>C	ENSP00000494334.1:n.*924G>C
ENST00000642610.2:c.1150G>C MANE Select	ENSP00000494796.1:p.Asp384His
ENST00000642764.1:n.1981G>C
ENST00000643125.1:c.*165G>C	ENSP00000494102.1:n.*165G>C
ENST00000643142.1:c.*641G>C	ENSP00000494755.1:n.*641G>C
ENST00000643238.1:c.*170G>C	ENSP00000495916.1:n.*170G>C
ENST00000643410.1:c.*440G>C	ENSP00000495030.1:n.*440G>C
ENST00000643487.1:n.1837G>C
ENST00000643524.1:c.*735G>C	ENSP00000494026.1:n.*735G>C
ENST00000643615.1:c.*1116+1328G>C	ENSP00000496103.1:n.*1116+1328G>C
ENST00000643993.1:n.1286G>C
ENST00000643994.1:c.*1150G>C	ENSP00000496322.1:n.*1150G>C
ENST00000644037.1:c.*1360G>C	ENSP00000496408.1:n.*1360G>C
ENST00000644055.1:c.*1775G>C	ENSP00000496307.1:n.*1775G>C
ENST00000644126.1:n.2822G>C
ENST00000644217.1:c.1150G>C	ENSP00000494646.1:p.Asp384His
ENST00000644265.1:c.519G>C
ENST00000644578.1:c.964G>C	ENSP00000495953.1:p.Asp322His
ENST00000644604.1:c.1150G>C	ENSP00000495961.1:p.Asp384His
ENST00000644680.1:c.*1671G>C	ENSP00000496173.1:n.*1671G>C
ENST00000644838.1:c.*533G>C	ENSP00000495910.1:n.*533G>C
ENST00000644910.1:c.1757G>C
ENST00000645205.1:c.1150G>C	ENSP00000495823.1:p.Asp384His
ENST00000645351.1:c.1150G>C	ENSP00000494319.1:p.Asp384His
ENST00000645551.1:c.*867G>C	ENSP00000495928.1:n.*867G>C
ENST00000645578.1:c.*924G>C	ENSP00000496495.1:n.*924G>C
ENST00000645582.1:c.*980G>C	ENSP00000494980.1:n.*980G>C
ENST00000645655.1:c.1150G>C	ENSP00000495202.1:p.Asp384His
ENST00000645662.1:c.*609G>C	ENSP00000495964.1:n.*609G>C
ENST00000645836.1:c.*924G>C	ENSP00000493915.1:n.*924G>C
ENST00000645899.1:c.1150G>C	ENSP00000496773.1:p.Asp384His
ENST00000645964.1:c.*1016G>C	ENSP00000494208.1:n.*1016G>C
ENST00000646104.1:c.*1618G>C	ENSP00000495475.1:n.*1618G>C
ENST00000646186.1:c.*822G>C	ENSP00000493806.1:n.*822G>C
ENST00000646286.1:c.*1043G>C	ENSP00000494291.1:n.*1043G>C
ENST00000646463.1:c.*915G>C	ENSP00000494541.1:n.*915G>C
ENST00000646528.1:c.*1866G>C	ENSP00000496553.1:n.*1866G>C
ENST00000646536.1:c.*440G>C	ENSP00000494801.1:n.*440G>C
ENST00000646624.1:c.1150G>C	ENSP00000494575.1:p.Asp384His
ENST00000646821.1:c.*440G>C	ENSP00000495257.1:n.*440G>C
ENST00000646842.1:n.594G>C
ENST00000646848.1:c.*365G>C	ENSP00000495831.1:n.*365G>C
ENST00000647186.1:c.1150G>C	ENSP00000494775.1:p.Asp384His
ENST00000647233.1:n.2130G>C
ENST00000647322.1:c.741G>C
ENST00000647418.1:c.*924G>C	ENSP00000493552.1:n.*924G>C
ENST00000647428.1:c.811G>C	ENSP00000495630.1:p.Asp271His
ENST00000651186.1:c.811G>C	ENSP00000498645.1:p.Asp271His
ENST00000366601.7:c.1150G>C	ENSP00000355560.3:p.Asp384His
ENST00000406207.4:c.1150G>C	ENSP00000384571.1:p.Asp384His
ENST00000472011.5:n.1202G>C
ENST00000543662.3:c.1303G>C	ENSP00000439170.1:p.Asp435His
NM_001079515.2:c.1150G>C	NP_001072983.1:p.Asp384His
NM_001287801.1:c.1303G>C	NP_001274730.1:p.Asp435His
NM_001287802.1:c.811G>C	NP_001274731.1:p.Asp271His
NM_003193.4:c.1150G>C	NP_003184.1:p.Asp384His
NM_003193.5:c.1150G>C MANE Select	NP_003184.1:p.Asp384His
NM_001079515.3:c.1150G>C	NP_001072983.1:p.Asp384His
NM_001287801.2:c.1303G>C	NP_001274730.1:p.Asp435His
NM_001287802.2:c.811G>C	NP_001274731.1:p.Asp271His