Canonical Allele Identifier: CA1464319

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437408A>G , CM000663.2:g.235437408A>G	GRCh38
NC_000001.10:g.235600723A>G , CM000663.1:g.235600723A>G	GRCh37
NC_000001.9:g.233667346A>G	NCBI36
NG_009230.1:g.74996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.861A>G	ENSP00000355560.4:p.Glu287=
ENST00000406207.5:c.1050A>G	ENSP00000384571.1:p.Glu350=
ENST00000472011.6:n.1774A>G
ENST00000543662.4:c.1203A>G	ENSP00000439170.1:p.Glu401=
ENST00000642339.1:c.*747A>G	ENSP00000495425.1:n.*747A>G
ENST00000642431.1:c.1627A>G
ENST00000642463.1:c.*948A>G	ENSP00000495007.1:n.*948A>G
ENST00000642503.1:c.*824A>G	ENSP00000494334.1:n.*824A>G
ENST00000642610.2:c.1050A>G MANE Select	ENSP00000494796.1:p.Glu350=
ENST00000642764.1:n.1881A>G
ENST00000643125.1:c.*65A>G	ENSP00000494102.1:n.*65A>G
ENST00000643142.1:c.*541A>G	ENSP00000494755.1:n.*541A>G
ENST00000643238.1:c.*70A>G	ENSP00000495916.1:n.*70A>G
ENST00000643410.1:c.*340A>G	ENSP00000495030.1:n.*340A>G
ENST00000643487.1:n.1737A>G
ENST00000643524.1:c.*635A>G	ENSP00000494026.1:n.*635A>G
ENST00000643615.1:c.*1050A>G	ENSP00000496103.1:n.*1050A>G
ENST00000643993.1:n.1186A>G
ENST00000643994.1:c.*1050A>G	ENSP00000496322.1:n.*1050A>G
ENST00000644037.1:c.*1260A>G	ENSP00000496408.1:n.*1260A>G
ENST00000644055.1:c.*1675A>G	ENSP00000496307.1:n.*1675A>G
ENST00000644126.1:n.2722A>G
ENST00000644217.1:c.1050A>G	ENSP00000494646.1:p.Glu350=
ENST00000644265.1:c.419A>G
ENST00000644578.1:c.864A>G	ENSP00000495953.1:p.Glu288=
ENST00000644604.1:c.1050A>G	ENSP00000495961.1:p.Glu350=
ENST00000644680.1:c.*1571A>G	ENSP00000496173.1:n.*1571A>G
ENST00000644838.1:c.*433A>G	ENSP00000495910.1:n.*433A>G
ENST00000644910.1:c.1657A>G
ENST00000645205.1:c.1050A>G	ENSP00000495823.1:p.Glu350=
ENST00000645351.1:c.1050A>G	ENSP00000494319.1:p.Glu350=
ENST00000645551.1:c.*767A>G	ENSP00000495928.1:n.*767A>G
ENST00000645578.1:c.*824A>G	ENSP00000496495.1:n.*824A>G
ENST00000645582.1:c.*880A>G	ENSP00000494980.1:n.*880A>G
ENST00000645655.1:c.1050A>G	ENSP00000495202.1:p.Glu350=
ENST00000645662.1:c.*509A>G	ENSP00000495964.1:n.*509A>G
ENST00000645836.1:c.*824A>G	ENSP00000493915.1:n.*824A>G
ENST00000645899.1:c.1050A>G	ENSP00000496773.1:p.Glu350=
ENST00000645964.1:c.*916A>G	ENSP00000494208.1:n.*916A>G
ENST00000646104.1:c.*1518A>G	ENSP00000495475.1:n.*1518A>G
ENST00000646186.1:c.*722A>G	ENSP00000493806.1:n.*722A>G
ENST00000646281.1:c.1050A>G	ENSP00000495225.1:p.Glu350=
ENST00000646286.1:c.*943A>G	ENSP00000494291.1:n.*943A>G
ENST00000646463.1:c.*815A>G	ENSP00000494541.1:n.*815A>G
ENST00000646528.1:c.*1766A>G	ENSP00000496553.1:n.*1766A>G
ENST00000646536.1:c.*340A>G	ENSP00000494801.1:n.*340A>G
ENST00000646624.1:c.1050A>G	ENSP00000494575.1:p.Glu350=
ENST00000646821.1:c.*340A>G	ENSP00000495257.1:n.*340A>G
ENST00000646842.1:n.494A>G
ENST00000646848.1:c.*265A>G	ENSP00000495831.1:n.*265A>G
ENST00000647186.1:c.1050A>G	ENSP00000494775.1:p.Glu350=
ENST00000647233.1:n.2030A>G
ENST00000647322.1:c.641A>G
ENST00000647418.1:c.*824A>G	ENSP00000493552.1:n.*824A>G
ENST00000647428.1:c.711A>G	ENSP00000495630.1:p.Glu237=
ENST00000651186.1:c.711A>G	ENSP00000498645.1:p.Glu237=
ENST00000366601.7:c.1050A>G	ENSP00000355560.3:p.Glu350=
ENST00000406207.4:c.1050A>G	ENSP00000384571.1:p.Glu350=
ENST00000472011.5:n.1102A>G
ENST00000543662.3:c.1203A>G	ENSP00000439170.1:p.Glu401=
NM_001079515.2:c.1050A>G	NP_001072983.1:p.Glu350=
NM_001287801.1:c.1203A>G	NP_001274730.1:p.Glu401=
NM_001287802.1:c.711A>G	NP_001274731.1:p.Glu237=
NM_003193.4:c.1050A>G	NP_003184.1:p.Glu350=
NM_003193.5:c.1050A>G MANE Select	NP_003184.1:p.Glu350=
NM_001079515.3:c.1050A>G	NP_001072983.1:p.Glu350=
NM_001287801.2:c.1203A>G	NP_001274730.1:p.Glu401=
NM_001287802.2:c.711A>G	NP_001274731.1:p.Glu237=