Canonical Allele Identifier: CA423771861

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602209C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438894C>G , CM000663.2:g.235438894C>G	GRCh38
NC_000001.10:g.235602209C>G , CM000663.1:g.235602209C>G	GRCh37
NC_000001.9:g.233668832C>G	NCBI36
NG_009230.1:g.76482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1053C>G	ENSP00000355560.4:p.Ala351=
ENST00000406207.5:c.1242C>G	ENSP00000384571.1:p.Ala414=
ENST00000472011.6:n.1966C>G
ENST00000543662.4:c.1395C>G	ENSP00000439170.1:p.Ala465=
ENST00000642339.1:c.*939C>G	ENSP00000495425.1:n.*939C>G
ENST00000642431.1:c.1819C>G
ENST00000642463.1:c.*1140C>G	ENSP00000495007.1:n.*1140C>G
ENST00000642503.1:c.*1016C>G	ENSP00000494334.1:n.*1016C>G
ENST00000642610.2:c.1242C>G MANE Select	ENSP00000494796.1:p.Ala414=
ENST00000642764.1:n.2073C>G
ENST00000643125.1:c.*257C>G	ENSP00000494102.1:n.*257C>G
ENST00000643142.1:c.*733C>G	ENSP00000494755.1:n.*733C>G
ENST00000643238.1:c.*262C>G	ENSP00000495916.1:n.*262C>G
ENST00000643410.1:c.*532C>G	ENSP00000495030.1:n.*532C>G
ENST00000643487.1:n.1929C>G
ENST00000643524.1:c.*827C>G	ENSP00000494026.1:n.*827C>G
ENST00000643615.1:c.*1116+1420C>G	ENSP00000496103.1:n.*1116+1420C>G
ENST00000643993.1:n.1378C>G
ENST00000643994.1:c.*1242C>G	ENSP00000496322.1:n.*1242C>G
ENST00000644037.1:c.*1452C>G	ENSP00000496408.1:n.*1452C>G
ENST00000644055.1:c.*1867C>G	ENSP00000496307.1:n.*1867C>G
ENST00000644126.1:n.2914C>G
ENST00000644217.1:c.1242C>G	ENSP00000494646.1:p.Ala414=
ENST00000644265.1:c.611C>G
ENST00000644578.1:c.1056C>G	ENSP00000495953.1:p.Ala352=
ENST00000644604.1:c.1242C>G	ENSP00000495961.1:p.Ala414=
ENST00000644680.1:c.*1763C>G	ENSP00000496173.1:n.*1763C>G
ENST00000644838.1:c.*625C>G	ENSP00000495910.1:n.*625C>G
ENST00000644910.1:c.1849C>G
ENST00000645205.1:c.1242C>G	ENSP00000495823.1:p.Ala414=
ENST00000645351.1:c.1242C>G	ENSP00000494319.1:p.Ala414=
ENST00000645551.1:c.*959C>G	ENSP00000495928.1:n.*959C>G
ENST00000645578.1:c.*1016C>G	ENSP00000496495.1:n.*1016C>G
ENST00000645582.1:c.*1072C>G	ENSP00000494980.1:n.*1072C>G
ENST00000645655.1:c.1242C>G	ENSP00000495202.1:p.Ala414=
ENST00000645662.1:c.*701C>G	ENSP00000495964.1:n.*701C>G
ENST00000645836.1:c.*1016C>G	ENSP00000493915.1:n.*1016C>G
ENST00000645899.1:c.1242C>G	ENSP00000496773.1:p.Ala414=
ENST00000645964.1:c.*1108C>G	ENSP00000494208.1:n.*1108C>G
ENST00000646104.1:c.*1710C>G	ENSP00000495475.1:n.*1710C>G
ENST00000646186.1:c.*914C>G	ENSP00000493806.1:n.*914C>G
ENST00000646286.1:c.*1135C>G	ENSP00000494291.1:n.*1135C>G
ENST00000646463.1:c.*1007C>G	ENSP00000494541.1:n.*1007C>G
ENST00000646528.1:c.*1958C>G	ENSP00000496553.1:n.*1958C>G
ENST00000646536.1:c.*532C>G	ENSP00000494801.1:n.*532C>G
ENST00000646624.1:c.1242C>G	ENSP00000494575.1:p.Ala414=
ENST00000646821.1:c.*532C>G	ENSP00000495257.1:n.*532C>G
ENST00000646842.1:n.686C>G
ENST00000646848.1:c.*457C>G	ENSP00000495831.1:n.*457C>G
ENST00000647186.1:c.1242C>G	ENSP00000494775.1:p.Ala414=
ENST00000647233.1:n.2222C>G
ENST00000647322.1:c.833C>G
ENST00000647418.1:c.*1016C>G	ENSP00000493552.1:n.*1016C>G
ENST00000647428.1:c.903C>G	ENSP00000495630.1:p.Ala301=
ENST00000651186.1:c.903C>G	ENSP00000498645.1:p.Ala301=
ENST00000366601.7:c.1242C>G	ENSP00000355560.3:p.Ala414=
ENST00000406207.4:c.1242C>G	ENSP00000384571.1:p.Ala414=
ENST00000472011.5:n.1294C>G
ENST00000543662.3:c.1395C>G	ENSP00000439170.1:p.Ala465=
NM_001079515.2:c.1242C>G	NP_001072983.1:p.Ala414=
NM_001287801.1:c.1395C>G	NP_001274730.1:p.Ala465=
NM_001287802.1:c.903C>G	NP_001274731.1:p.Ala301=
NM_003193.4:c.1242C>G	NP_003184.1:p.Ala414=
NM_003193.5:c.1242C>G MANE Select	NP_003184.1:p.Ala414=
NM_001079515.3:c.1242C>G	NP_001072983.1:p.Ala414=
NM_001287801.2:c.1395C>G	NP_001274730.1:p.Ala465=
NM_001287802.2:c.903C>G	NP_001274731.1:p.Ala301=