Canonical Allele Identifier: CA344945639

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602201C>A (hg19) ; chr1:g.235438886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438886C>A , CM000663.2:g.235438886C>A	GRCh38
NC_000001.10:g.235602201C>A , CM000663.1:g.235602201C>A	GRCh37
NC_000001.9:g.233668824C>A	NCBI36
NG_009230.1:g.76474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1045C>A	ENSP00000355560.4:p.Leu349Ile
ENST00000406207.5:c.1234C>A	ENSP00000384571.1:p.Leu412Ile
ENST00000472011.6:n.1958C>A
ENST00000543662.4:c.1387C>A	ENSP00000439170.1:p.Leu463Ile
ENST00000642339.1:c.*931C>A	ENSP00000495425.1:n.*931C>A
ENST00000642431.1:c.1811C>A
ENST00000642463.1:c.*1132C>A	ENSP00000495007.1:n.*1132C>A
ENST00000642503.1:c.*1008C>A	ENSP00000494334.1:n.*1008C>A
ENST00000642610.2:c.1234C>A MANE Select	ENSP00000494796.1:p.Leu412Ile
ENST00000642764.1:n.2065C>A
ENST00000643125.1:c.*249C>A	ENSP00000494102.1:n.*249C>A
ENST00000643142.1:c.*725C>A	ENSP00000494755.1:n.*725C>A
ENST00000643238.1:c.*254C>A	ENSP00000495916.1:n.*254C>A
ENST00000643410.1:c.*524C>A	ENSP00000495030.1:n.*524C>A
ENST00000643487.1:n.1921C>A
ENST00000643524.1:c.*819C>A	ENSP00000494026.1:n.*819C>A
ENST00000643615.1:c.*1116+1412C>A	ENSP00000496103.1:n.*1116+1412C>A
ENST00000643993.1:n.1370C>A
ENST00000643994.1:c.*1234C>A	ENSP00000496322.1:n.*1234C>A
ENST00000644037.1:c.*1444C>A	ENSP00000496408.1:n.*1444C>A
ENST00000644055.1:c.*1859C>A	ENSP00000496307.1:n.*1859C>A
ENST00000644126.1:n.2906C>A
ENST00000644217.1:c.1234C>A	ENSP00000494646.1:p.Leu412Ile
ENST00000644265.1:c.603C>A
ENST00000644578.1:c.1048C>A	ENSP00000495953.1:p.Leu350Ile
ENST00000644604.1:c.1234C>A	ENSP00000495961.1:p.Leu412Ile
ENST00000644680.1:c.*1755C>A	ENSP00000496173.1:n.*1755C>A
ENST00000644838.1:c.*617C>A	ENSP00000495910.1:n.*617C>A
ENST00000644910.1:c.1841C>A
ENST00000645205.1:c.1234C>A	ENSP00000495823.1:p.Leu412Ile
ENST00000645351.1:c.1234C>A	ENSP00000494319.1:p.Leu412Ile
ENST00000645551.1:c.*951C>A	ENSP00000495928.1:n.*951C>A
ENST00000645578.1:c.*1008C>A	ENSP00000496495.1:n.*1008C>A
ENST00000645582.1:c.*1064C>A	ENSP00000494980.1:n.*1064C>A
ENST00000645655.1:c.1234C>A	ENSP00000495202.1:p.Leu412Ile
ENST00000645662.1:c.*693C>A	ENSP00000495964.1:n.*693C>A
ENST00000645836.1:c.*1008C>A	ENSP00000493915.1:n.*1008C>A
ENST00000645899.1:c.1234C>A	ENSP00000496773.1:p.Leu412Ile
ENST00000645964.1:c.*1100C>A	ENSP00000494208.1:n.*1100C>A
ENST00000646104.1:c.*1702C>A	ENSP00000495475.1:n.*1702C>A
ENST00000646186.1:c.*906C>A	ENSP00000493806.1:n.*906C>A
ENST00000646286.1:c.*1127C>A	ENSP00000494291.1:n.*1127C>A
ENST00000646463.1:c.*999C>A	ENSP00000494541.1:n.*999C>A
ENST00000646528.1:c.*1950C>A	ENSP00000496553.1:n.*1950C>A
ENST00000646536.1:c.*524C>A	ENSP00000494801.1:n.*524C>A
ENST00000646624.1:c.1234C>A	ENSP00000494575.1:p.Leu412Ile
ENST00000646821.1:c.*524C>A	ENSP00000495257.1:n.*524C>A
ENST00000646842.1:n.678C>A
ENST00000646848.1:c.*449C>A	ENSP00000495831.1:n.*449C>A
ENST00000647186.1:c.1234C>A	ENSP00000494775.1:p.Leu412Ile
ENST00000647233.1:n.2214C>A
ENST00000647322.1:c.825C>A
ENST00000647418.1:c.*1008C>A	ENSP00000493552.1:n.*1008C>A
ENST00000647428.1:c.895C>A	ENSP00000495630.1:p.Leu299Ile
ENST00000651186.1:c.895C>A	ENSP00000498645.1:p.Leu299Ile
ENST00000366601.7:c.1234C>A	ENSP00000355560.3:p.Leu412Ile
ENST00000406207.4:c.1234C>A	ENSP00000384571.1:p.Leu412Ile
ENST00000472011.5:n.1286C>A
ENST00000543662.3:c.1387C>A	ENSP00000439170.1:p.Leu463Ile
NM_001079515.2:c.1234C>A	NP_001072983.1:p.Leu412Ile
NM_001287801.1:c.1387C>A	NP_001274730.1:p.Leu463Ile
NM_001287802.1:c.895C>A	NP_001274731.1:p.Leu299Ile
NM_003193.4:c.1234C>A	NP_003184.1:p.Leu412Ile
NM_003193.5:c.1234C>A MANE Select	NP_003184.1:p.Leu412Ile
NM_001079515.3:c.1234C>A	NP_001072983.1:p.Leu412Ile
NM_001287801.2:c.1387C>A	NP_001274730.1:p.Leu463Ile
NM_001287802.2:c.895C>A	NP_001274731.1:p.Leu299Ile