Canonical Allele Identifier: CA423771717

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602152G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438837G>A , CM000663.2:g.235438837G>A	GRCh38
NC_000001.10:g.235602152G>A , CM000663.1:g.235602152G>A	GRCh37
NC_000001.9:g.233668775G>A	NCBI36
NG_009230.1:g.76425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.996G>A	ENSP00000355560.4:p.Gln332=
ENST00000406207.5:c.1185G>A	ENSP00000384571.1:p.Gln395=
ENST00000472011.6:n.1909G>A
ENST00000543662.4:c.1338G>A	ENSP00000439170.1:p.Gln446=
ENST00000642339.1:c.*882G>A	ENSP00000495425.1:n.*882G>A
ENST00000642431.1:c.1762G>A
ENST00000642463.1:c.*1083G>A	ENSP00000495007.1:n.*1083G>A
ENST00000642503.1:c.*959G>A	ENSP00000494334.1:n.*959G>A
ENST00000642610.2:c.1185G>A MANE Select	ENSP00000494796.1:p.Gln395=
ENST00000642764.1:n.2016G>A
ENST00000643125.1:c.*200G>A	ENSP00000494102.1:n.*200G>A
ENST00000643142.1:c.*676G>A	ENSP00000494755.1:n.*676G>A
ENST00000643238.1:c.*205G>A	ENSP00000495916.1:n.*205G>A
ENST00000643410.1:c.*475G>A	ENSP00000495030.1:n.*475G>A
ENST00000643487.1:n.1872G>A
ENST00000643524.1:c.*770G>A	ENSP00000494026.1:n.*770G>A
ENST00000643615.1:c.*1116+1363G>A	ENSP00000496103.1:n.*1116+1363G>A
ENST00000643993.1:n.1321G>A
ENST00000643994.1:c.*1185G>A	ENSP00000496322.1:n.*1185G>A
ENST00000644037.1:c.*1395G>A	ENSP00000496408.1:n.*1395G>A
ENST00000644055.1:c.*1810G>A	ENSP00000496307.1:n.*1810G>A
ENST00000644126.1:n.2857G>A
ENST00000644217.1:c.1185G>A	ENSP00000494646.1:p.Gln395=
ENST00000644265.1:c.554G>A
ENST00000644578.1:c.999G>A	ENSP00000495953.1:p.Gln333=
ENST00000644604.1:c.1185G>A	ENSP00000495961.1:p.Gln395=
ENST00000644680.1:c.*1706G>A	ENSP00000496173.1:n.*1706G>A
ENST00000644838.1:c.*568G>A	ENSP00000495910.1:n.*568G>A
ENST00000644910.1:c.1792G>A
ENST00000645205.1:c.1185G>A	ENSP00000495823.1:p.Gln395=
ENST00000645351.1:c.1185G>A	ENSP00000494319.1:p.Gln395=
ENST00000645551.1:c.*902G>A	ENSP00000495928.1:n.*902G>A
ENST00000645578.1:c.*959G>A	ENSP00000496495.1:n.*959G>A
ENST00000645582.1:c.*1015G>A	ENSP00000494980.1:n.*1015G>A
ENST00000645655.1:c.1185G>A	ENSP00000495202.1:p.Gln395=
ENST00000645662.1:c.*644G>A	ENSP00000495964.1:n.*644G>A
ENST00000645836.1:c.*959G>A	ENSP00000493915.1:n.*959G>A
ENST00000645899.1:c.1185G>A	ENSP00000496773.1:p.Gln395=
ENST00000645964.1:c.*1051G>A	ENSP00000494208.1:n.*1051G>A
ENST00000646104.1:c.*1653G>A	ENSP00000495475.1:n.*1653G>A
ENST00000646186.1:c.*857G>A	ENSP00000493806.1:n.*857G>A
ENST00000646286.1:c.*1078G>A	ENSP00000494291.1:n.*1078G>A
ENST00000646463.1:c.*950G>A	ENSP00000494541.1:n.*950G>A
ENST00000646528.1:c.*1901G>A	ENSP00000496553.1:n.*1901G>A
ENST00000646536.1:c.*475G>A	ENSP00000494801.1:n.*475G>A
ENST00000646624.1:c.1185G>A	ENSP00000494575.1:p.Gln395=
ENST00000646821.1:c.*475G>A	ENSP00000495257.1:n.*475G>A
ENST00000646842.1:n.629G>A
ENST00000646848.1:c.*400G>A	ENSP00000495831.1:n.*400G>A
ENST00000647186.1:c.1185G>A	ENSP00000494775.1:p.Gln395=
ENST00000647233.1:n.2165G>A
ENST00000647322.1:c.776G>A
ENST00000647418.1:c.*959G>A	ENSP00000493552.1:n.*959G>A
ENST00000647428.1:c.846G>A	ENSP00000495630.1:p.Gln282=
ENST00000651186.1:c.846G>A	ENSP00000498645.1:p.Gln282=
ENST00000366601.7:c.1185G>A	ENSP00000355560.3:p.Gln395=
ENST00000406207.4:c.1185G>A	ENSP00000384571.1:p.Gln395=
ENST00000472011.5:n.1237G>A
ENST00000543662.3:c.1338G>A	ENSP00000439170.1:p.Gln446=
NM_001079515.2:c.1185G>A	NP_001072983.1:p.Gln395=
NM_001287801.1:c.1338G>A	NP_001274730.1:p.Gln446=
NM_001287802.1:c.846G>A	NP_001274731.1:p.Gln282=
NM_003193.4:c.1185G>A	NP_003184.1:p.Gln395=
NM_003193.5:c.1185G>A MANE Select	NP_003184.1:p.Gln395=
NM_001079515.3:c.1185G>A	NP_001072983.1:p.Gln395=
NM_001287801.2:c.1338G>A	NP_001274730.1:p.Gln446=
NM_001287802.2:c.846G>A	NP_001274731.1:p.Gln282=