Canonical Allele Identifier: CA423771749
Gene: TBCE HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.235602164T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438849T>C , CM000663.2:g.235438849T>C GRCh38
NC_000001.10:g.235602164T>C , CM000663.1:g.235602164T>C GRCh37
NC_000001.9:g.233668787T>C NCBI36
NG_009230.1:g.76437T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1008T>C ENSP00000355560.4:p.His336=
ENST00000406207.5:c.1197T>C ENSP00000384571.1:p.His399=
ENST00000472011.6:n.1921T>C
ENST00000543662.4:c.1350T>C ENSP00000439170.1:p.His450=
ENST00000642339.1:c.*894T>C ENSP00000495425.1:n.*894T>C
ENST00000642431.1:c.1774T>C
ENST00000642463.1:c.*1095T>C ENSP00000495007.1:n.*1095T>C
ENST00000642503.1:c.*971T>C ENSP00000494334.1:n.*971T>C
ENST00000642610.2:c.1197T>C MANE Select ENSP00000494796.1:p.His399=
ENST00000642764.1:n.2028T>C
ENST00000643125.1:c.*212T>C ENSP00000494102.1:n.*212T>C
ENST00000643142.1:c.*688T>C ENSP00000494755.1:n.*688T>C
ENST00000643238.1:c.*217T>C ENSP00000495916.1:n.*217T>C
ENST00000643410.1:c.*487T>C ENSP00000495030.1:n.*487T>C
ENST00000643487.1:n.1884T>C
ENST00000643524.1:c.*782T>C ENSP00000494026.1:n.*782T>C
ENST00000643615.1:c.*1116+1375T>C ENSP00000496103.1:n.*1116+1375T>C
ENST00000643993.1:n.1333T>C
ENST00000643994.1:c.*1197T>C ENSP00000496322.1:n.*1197T>C
ENST00000644037.1:c.*1407T>C ENSP00000496408.1:n.*1407T>C
ENST00000644055.1:c.*1822T>C ENSP00000496307.1:n.*1822T>C
ENST00000644126.1:n.2869T>C
ENST00000644217.1:c.1197T>C ENSP00000494646.1:p.His399=
ENST00000644265.1:c.566T>C
ENST00000644578.1:c.1011T>C ENSP00000495953.1:p.His337=
ENST00000644604.1:c.1197T>C ENSP00000495961.1:p.His399=
ENST00000644680.1:c.*1718T>C ENSP00000496173.1:n.*1718T>C
ENST00000644838.1:c.*580T>C ENSP00000495910.1:n.*580T>C
ENST00000644910.1:c.1804T>C
ENST00000645205.1:c.1197T>C ENSP00000495823.1:p.His399=
ENST00000645351.1:c.1197T>C ENSP00000494319.1:p.His399=
ENST00000645551.1:c.*914T>C ENSP00000495928.1:n.*914T>C
ENST00000645578.1:c.*971T>C ENSP00000496495.1:n.*971T>C
ENST00000645582.1:c.*1027T>C ENSP00000494980.1:n.*1027T>C
ENST00000645655.1:c.1197T>C ENSP00000495202.1:p.His399=
ENST00000645662.1:c.*656T>C ENSP00000495964.1:n.*656T>C
ENST00000645836.1:c.*971T>C ENSP00000493915.1:n.*971T>C
ENST00000645899.1:c.1197T>C ENSP00000496773.1:p.His399=
ENST00000645964.1:c.*1063T>C ENSP00000494208.1:n.*1063T>C
ENST00000646104.1:c.*1665T>C ENSP00000495475.1:n.*1665T>C
ENST00000646186.1:c.*869T>C ENSP00000493806.1:n.*869T>C
ENST00000646286.1:c.*1090T>C ENSP00000494291.1:n.*1090T>C
ENST00000646463.1:c.*962T>C ENSP00000494541.1:n.*962T>C
ENST00000646528.1:c.*1913T>C ENSP00000496553.1:n.*1913T>C
ENST00000646536.1:c.*487T>C ENSP00000494801.1:n.*487T>C
ENST00000646624.1:c.1197T>C ENSP00000494575.1:p.His399=
ENST00000646821.1:c.*487T>C ENSP00000495257.1:n.*487T>C
ENST00000646842.1:n.641T>C
ENST00000646848.1:c.*412T>C ENSP00000495831.1:n.*412T>C
ENST00000647186.1:c.1197T>C ENSP00000494775.1:p.His399=
ENST00000647233.1:n.2177T>C
ENST00000647322.1:c.788T>C
ENST00000647418.1:c.*971T>C ENSP00000493552.1:n.*971T>C
ENST00000647428.1:c.858T>C ENSP00000495630.1:p.His286=
ENST00000651186.1:c.858T>C ENSP00000498645.1:p.His286=
ENST00000366601.7:c.1197T>C ENSP00000355560.3:p.His399=
ENST00000406207.4:c.1197T>C ENSP00000384571.1:p.His399=
ENST00000472011.5:n.1249T>C
ENST00000543662.3:c.1350T>C ENSP00000439170.1:p.His450=
NM_001079515.2:c.1197T>C NP_001072983.1:p.His399=
NM_001287801.1:c.1350T>C NP_001274730.1:p.His450=
NM_001287802.1:c.858T>C NP_001274731.1:p.His286=
NM_003193.4:c.1197T>C NP_003184.1:p.His399=
NM_003193.5:c.1197T>C MANE Select NP_003184.1:p.His399=
NM_001079515.3:c.1197T>C NP_001072983.1:p.His399=
NM_001287801.2:c.1350T>C NP_001274730.1:p.His450=
NM_001287802.2:c.858T>C NP_001274731.1:p.His286=