Canonical Allele Identifier: CA39592788

Gene: TBCE

Linked Data

• ClinVar Variation Id: 2792510
• ClinVar RCV Id: RCV003667283
• dbSNP Id: rs377572633
• MyVariant Identifiers: chr1:g.235602195G>T (hg19) ; chr1:g.235438880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438880G>T , CM000663.2:g.235438880G>T	GRCh38
NC_000001.10:g.235602195G>T , CM000663.1:g.235602195G>T	GRCh37
NC_000001.9:g.233668818G>T	NCBI36
NG_009230.1:g.76468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1039G>T	ENSP00000355560.4:p.Glu347Ter
ENST00000406207.5:c.1228G>T	ENSP00000384571.1:p.Glu410Ter
ENST00000472011.6:n.1952G>T
ENST00000543662.4:c.1381G>T	ENSP00000439170.1:p.Glu461Ter
ENST00000642339.1:c.*925G>T	ENSP00000495425.1:n.*925G>T
ENST00000642431.1:c.1805G>T
ENST00000642463.1:c.*1126G>T	ENSP00000495007.1:n.*1126G>T
ENST00000642503.1:c.*1002G>T	ENSP00000494334.1:n.*1002G>T
ENST00000642610.2:c.1228G>T MANE Select	ENSP00000494796.1:p.Glu410Ter
ENST00000642764.1:n.2059G>T
ENST00000643125.1:c.*243G>T	ENSP00000494102.1:n.*243G>T
ENST00000643142.1:c.*719G>T	ENSP00000494755.1:n.*719G>T
ENST00000643238.1:c.*248G>T	ENSP00000495916.1:n.*248G>T
ENST00000643410.1:c.*518G>T	ENSP00000495030.1:n.*518G>T
ENST00000643487.1:n.1915G>T
ENST00000643524.1:c.*813G>T	ENSP00000494026.1:n.*813G>T
ENST00000643615.1:c.*1116+1406G>T	ENSP00000496103.1:n.*1116+1406G>T
ENST00000643993.1:n.1364G>T
ENST00000643994.1:c.*1228G>T	ENSP00000496322.1:n.*1228G>T
ENST00000644037.1:c.*1438G>T	ENSP00000496408.1:n.*1438G>T
ENST00000644055.1:c.*1853G>T	ENSP00000496307.1:n.*1853G>T
ENST00000644126.1:n.2900G>T
ENST00000644217.1:c.1228G>T	ENSP00000494646.1:p.Glu410Ter
ENST00000644265.1:c.597G>T
ENST00000644578.1:c.1042G>T	ENSP00000495953.1:p.Glu348Ter
ENST00000644604.1:c.1228G>T	ENSP00000495961.1:p.Glu410Ter
ENST00000644680.1:c.*1749G>T	ENSP00000496173.1:n.*1749G>T
ENST00000644838.1:c.*611G>T	ENSP00000495910.1:n.*611G>T
ENST00000644910.1:c.1835G>T
ENST00000645205.1:c.1228G>T	ENSP00000495823.1:p.Glu410Ter
ENST00000645351.1:c.1228G>T	ENSP00000494319.1:p.Glu410Ter
ENST00000645551.1:c.*945G>T	ENSP00000495928.1:n.*945G>T
ENST00000645578.1:c.*1002G>T	ENSP00000496495.1:n.*1002G>T
ENST00000645582.1:c.*1058G>T	ENSP00000494980.1:n.*1058G>T
ENST00000645655.1:c.1228G>T	ENSP00000495202.1:p.Glu410Ter
ENST00000645662.1:c.*687G>T	ENSP00000495964.1:n.*687G>T
ENST00000645836.1:c.*1002G>T	ENSP00000493915.1:n.*1002G>T
ENST00000645899.1:c.1228G>T	ENSP00000496773.1:p.Glu410Ter
ENST00000645964.1:c.*1094G>T	ENSP00000494208.1:n.*1094G>T
ENST00000646104.1:c.*1696G>T	ENSP00000495475.1:n.*1696G>T
ENST00000646186.1:c.*900G>T	ENSP00000493806.1:n.*900G>T
ENST00000646286.1:c.*1121G>T	ENSP00000494291.1:n.*1121G>T
ENST00000646463.1:c.*993G>T	ENSP00000494541.1:n.*993G>T
ENST00000646528.1:c.*1944G>T	ENSP00000496553.1:n.*1944G>T
ENST00000646536.1:c.*518G>T	ENSP00000494801.1:n.*518G>T
ENST00000646624.1:c.1228G>T	ENSP00000494575.1:p.Glu410Ter
ENST00000646821.1:c.*518G>T	ENSP00000495257.1:n.*518G>T
ENST00000646842.1:n.672G>T
ENST00000646848.1:c.*443G>T	ENSP00000495831.1:n.*443G>T
ENST00000647186.1:c.1228G>T	ENSP00000494775.1:p.Glu410Ter
ENST00000647233.1:n.2208G>T
ENST00000647322.1:c.819G>T
ENST00000647418.1:c.*1002G>T	ENSP00000493552.1:n.*1002G>T
ENST00000647428.1:c.889G>T	ENSP00000495630.1:p.Glu297Ter
ENST00000651186.1:c.889G>T	ENSP00000498645.1:p.Glu297Ter
ENST00000366601.7:c.1228G>T	ENSP00000355560.3:p.Glu410Ter
ENST00000406207.4:c.1228G>T	ENSP00000384571.1:p.Glu410Ter
ENST00000472011.5:n.1280G>T
ENST00000543662.3:c.1381G>T	ENSP00000439170.1:p.Glu461Ter
NM_001079515.2:c.1228G>T	NP_001072983.1:p.Glu410Ter
NM_001287801.1:c.1381G>T	NP_001274730.1:p.Glu461Ter
NM_001287802.1:c.889G>T	NP_001274731.1:p.Glu297Ter
NM_003193.4:c.1228G>T	NP_003184.1:p.Glu410Ter
NM_003193.5:c.1228G>T MANE Select	NP_003184.1:p.Glu410Ter
NM_001079515.3:c.1228G>T	NP_001072983.1:p.Glu410Ter
NM_001287801.2:c.1381G>T	NP_001274730.1:p.Glu461Ter
NM_001287802.2:c.889G>T	NP_001274731.1:p.Glu297Ter