Canonical Allele Identifier: CA344945534

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602191C>A (hg19) ; chr1:g.235438876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438876C>A , CM000663.2:g.235438876C>A	GRCh38
NC_000001.10:g.235602191C>A , CM000663.1:g.235602191C>A	GRCh37
NC_000001.9:g.233668814C>A	NCBI36
NG_009230.1:g.76464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1035C>A	ENSP00000355560.4:p.Ser345Arg
ENST00000406207.5:c.1224C>A	ENSP00000384571.1:p.Ser408Arg
ENST00000472011.6:n.1948C>A
ENST00000543662.4:c.1377C>A	ENSP00000439170.1:p.Ser459Arg
ENST00000642339.1:c.*921C>A	ENSP00000495425.1:n.*921C>A
ENST00000642431.1:c.1801C>A
ENST00000642463.1:c.*1122C>A	ENSP00000495007.1:n.*1122C>A
ENST00000642503.1:c.*998C>A	ENSP00000494334.1:n.*998C>A
ENST00000642610.2:c.1224C>A MANE Select	ENSP00000494796.1:p.Ser408Arg
ENST00000642764.1:n.2055C>A
ENST00000643125.1:c.*239C>A	ENSP00000494102.1:n.*239C>A
ENST00000643142.1:c.*715C>A	ENSP00000494755.1:n.*715C>A
ENST00000643238.1:c.*244C>A	ENSP00000495916.1:n.*244C>A
ENST00000643410.1:c.*514C>A	ENSP00000495030.1:n.*514C>A
ENST00000643487.1:n.1911C>A
ENST00000643524.1:c.*809C>A	ENSP00000494026.1:n.*809C>A
ENST00000643615.1:c.*1116+1402C>A	ENSP00000496103.1:n.*1116+1402C>A
ENST00000643993.1:n.1360C>A
ENST00000643994.1:c.*1224C>A	ENSP00000496322.1:n.*1224C>A
ENST00000644037.1:c.*1434C>A	ENSP00000496408.1:n.*1434C>A
ENST00000644055.1:c.*1849C>A	ENSP00000496307.1:n.*1849C>A
ENST00000644126.1:n.2896C>A
ENST00000644217.1:c.1224C>A	ENSP00000494646.1:p.Ser408Arg
ENST00000644265.1:c.593C>A
ENST00000644578.1:c.1038C>A	ENSP00000495953.1:p.Ser346Arg
ENST00000644604.1:c.1224C>A	ENSP00000495961.1:p.Ser408Arg
ENST00000644680.1:c.*1745C>A	ENSP00000496173.1:n.*1745C>A
ENST00000644838.1:c.*607C>A	ENSP00000495910.1:n.*607C>A
ENST00000644910.1:c.1831C>A
ENST00000645205.1:c.1224C>A	ENSP00000495823.1:p.Ser408Arg
ENST00000645351.1:c.1224C>A	ENSP00000494319.1:p.Ser408Arg
ENST00000645551.1:c.*941C>A	ENSP00000495928.1:n.*941C>A
ENST00000645578.1:c.*998C>A	ENSP00000496495.1:n.*998C>A
ENST00000645582.1:c.*1054C>A	ENSP00000494980.1:n.*1054C>A
ENST00000645655.1:c.1224C>A	ENSP00000495202.1:p.Ser408Arg
ENST00000645662.1:c.*683C>A	ENSP00000495964.1:n.*683C>A
ENST00000645836.1:c.*998C>A	ENSP00000493915.1:n.*998C>A
ENST00000645899.1:c.1224C>A	ENSP00000496773.1:p.Ser408Arg
ENST00000645964.1:c.*1090C>A	ENSP00000494208.1:n.*1090C>A
ENST00000646104.1:c.*1692C>A	ENSP00000495475.1:n.*1692C>A
ENST00000646186.1:c.*896C>A	ENSP00000493806.1:n.*896C>A
ENST00000646286.1:c.*1117C>A	ENSP00000494291.1:n.*1117C>A
ENST00000646463.1:c.*989C>A	ENSP00000494541.1:n.*989C>A
ENST00000646528.1:c.*1940C>A	ENSP00000496553.1:n.*1940C>A
ENST00000646536.1:c.*514C>A	ENSP00000494801.1:n.*514C>A
ENST00000646624.1:c.1224C>A	ENSP00000494575.1:p.Ser408Arg
ENST00000646821.1:c.*514C>A	ENSP00000495257.1:n.*514C>A
ENST00000646842.1:n.668C>A
ENST00000646848.1:c.*439C>A	ENSP00000495831.1:n.*439C>A
ENST00000647186.1:c.1224C>A	ENSP00000494775.1:p.Ser408Arg
ENST00000647233.1:n.2204C>A
ENST00000647322.1:c.815C>A
ENST00000647418.1:c.*998C>A	ENSP00000493552.1:n.*998C>A
ENST00000647428.1:c.885C>A	ENSP00000495630.1:p.Ser295Arg
ENST00000651186.1:c.885C>A	ENSP00000498645.1:p.Ser295Arg
ENST00000366601.7:c.1224C>A	ENSP00000355560.3:p.Ser408Arg
ENST00000406207.4:c.1224C>A	ENSP00000384571.1:p.Ser408Arg
ENST00000472011.5:n.1276C>A
ENST00000543662.3:c.1377C>A	ENSP00000439170.1:p.Ser459Arg
NM_001079515.2:c.1224C>A	NP_001072983.1:p.Ser408Arg
NM_001287801.1:c.1377C>A	NP_001274730.1:p.Ser459Arg
NM_001287802.1:c.885C>A	NP_001274731.1:p.Ser295Arg
NM_003193.4:c.1224C>A	NP_003184.1:p.Ser408Arg
NM_003193.5:c.1224C>A MANE Select	NP_003184.1:p.Ser408Arg
NM_001079515.3:c.1224C>A	NP_001072983.1:p.Ser408Arg
NM_001287801.2:c.1377C>A	NP_001274730.1:p.Ser459Arg
NM_001287802.2:c.885C>A	NP_001274731.1:p.Ser295Arg