Canonical Allele Identifier: CA423771734
Gene: TBCE HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.235602158T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438843T>C , CM000663.2:g.235438843T>C GRCh38
NC_000001.10:g.235602158T>C , CM000663.1:g.235602158T>C GRCh37
NC_000001.9:g.233668781T>C NCBI36
NG_009230.1:g.76431T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1002T>C ENSP00000355560.4:p.Gly334=
ENST00000406207.5:c.1191T>C ENSP00000384571.1:p.Gly397=
ENST00000472011.6:n.1915T>C
ENST00000543662.4:c.1344T>C ENSP00000439170.1:p.Gly448=
ENST00000642339.1:c.*888T>C ENSP00000495425.1:n.*888T>C
ENST00000642431.1:c.1768T>C
ENST00000642463.1:c.*1089T>C ENSP00000495007.1:n.*1089T>C
ENST00000642503.1:c.*965T>C ENSP00000494334.1:n.*965T>C
ENST00000642610.2:c.1191T>C MANE Select ENSP00000494796.1:p.Gly397=
ENST00000642764.1:n.2022T>C
ENST00000643125.1:c.*206T>C ENSP00000494102.1:n.*206T>C
ENST00000643142.1:c.*682T>C ENSP00000494755.1:n.*682T>C
ENST00000643238.1:c.*211T>C ENSP00000495916.1:n.*211T>C
ENST00000643410.1:c.*481T>C ENSP00000495030.1:n.*481T>C
ENST00000643487.1:n.1878T>C
ENST00000643524.1:c.*776T>C ENSP00000494026.1:n.*776T>C
ENST00000643615.1:c.*1116+1369T>C ENSP00000496103.1:n.*1116+1369T>C
ENST00000643993.1:n.1327T>C
ENST00000643994.1:c.*1191T>C ENSP00000496322.1:n.*1191T>C
ENST00000644037.1:c.*1401T>C ENSP00000496408.1:n.*1401T>C
ENST00000644055.1:c.*1816T>C ENSP00000496307.1:n.*1816T>C
ENST00000644126.1:n.2863T>C
ENST00000644217.1:c.1191T>C ENSP00000494646.1:p.Gly397=
ENST00000644265.1:c.560T>C
ENST00000644578.1:c.1005T>C ENSP00000495953.1:p.Gly335=
ENST00000644604.1:c.1191T>C ENSP00000495961.1:p.Gly397=
ENST00000644680.1:c.*1712T>C ENSP00000496173.1:n.*1712T>C
ENST00000644838.1:c.*574T>C ENSP00000495910.1:n.*574T>C
ENST00000644910.1:c.1798T>C
ENST00000645205.1:c.1191T>C ENSP00000495823.1:p.Gly397=
ENST00000645351.1:c.1191T>C ENSP00000494319.1:p.Gly397=
ENST00000645551.1:c.*908T>C ENSP00000495928.1:n.*908T>C
ENST00000645578.1:c.*965T>C ENSP00000496495.1:n.*965T>C
ENST00000645582.1:c.*1021T>C ENSP00000494980.1:n.*1021T>C
ENST00000645655.1:c.1191T>C ENSP00000495202.1:p.Gly397=
ENST00000645662.1:c.*650T>C ENSP00000495964.1:n.*650T>C
ENST00000645836.1:c.*965T>C ENSP00000493915.1:n.*965T>C
ENST00000645899.1:c.1191T>C ENSP00000496773.1:p.Gly397=
ENST00000645964.1:c.*1057T>C ENSP00000494208.1:n.*1057T>C
ENST00000646104.1:c.*1659T>C ENSP00000495475.1:n.*1659T>C
ENST00000646186.1:c.*863T>C ENSP00000493806.1:n.*863T>C
ENST00000646286.1:c.*1084T>C ENSP00000494291.1:n.*1084T>C
ENST00000646463.1:c.*956T>C ENSP00000494541.1:n.*956T>C
ENST00000646528.1:c.*1907T>C ENSP00000496553.1:n.*1907T>C
ENST00000646536.1:c.*481T>C ENSP00000494801.1:n.*481T>C
ENST00000646624.1:c.1191T>C ENSP00000494575.1:p.Gly397=
ENST00000646821.1:c.*481T>C ENSP00000495257.1:n.*481T>C
ENST00000646842.1:n.635T>C
ENST00000646848.1:c.*406T>C ENSP00000495831.1:n.*406T>C
ENST00000647186.1:c.1191T>C ENSP00000494775.1:p.Gly397=
ENST00000647233.1:n.2171T>C
ENST00000647322.1:c.782T>C
ENST00000647418.1:c.*965T>C ENSP00000493552.1:n.*965T>C
ENST00000647428.1:c.852T>C ENSP00000495630.1:p.Gly284=
ENST00000651186.1:c.852T>C ENSP00000498645.1:p.Gly284=
ENST00000366601.7:c.1191T>C ENSP00000355560.3:p.Gly397=
ENST00000406207.4:c.1191T>C ENSP00000384571.1:p.Gly397=
ENST00000472011.5:n.1243T>C
ENST00000543662.3:c.1344T>C ENSP00000439170.1:p.Gly448=
NM_001079515.2:c.1191T>C NP_001072983.1:p.Gly397=
NM_001287801.1:c.1344T>C NP_001274730.1:p.Gly448=
NM_001287802.1:c.852T>C NP_001274731.1:p.Gly284=
NM_003193.4:c.1191T>C NP_003184.1:p.Gly397=
NM_003193.5:c.1191T>C MANE Select NP_003184.1:p.Gly397=
NM_001079515.3:c.1191T>C NP_001072983.1:p.Gly397=
NM_001287801.2:c.1344T>C NP_001274730.1:p.Gly448=
NM_001287802.2:c.852T>C NP_001274731.1:p.Gly284=