Canonical Allele Identifier: CA344945385

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602175A>C (hg19) ; chr1:g.235438860A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438860A>C , CM000663.2:g.235438860A>C	GRCh38
NC_000001.10:g.235602175A>C , CM000663.1:g.235602175A>C	GRCh37
NC_000001.9:g.233668798A>C	NCBI36
NG_009230.1:g.76448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1019A>C	ENSP00000355560.4:p.Glu340Ala
ENST00000406207.5:c.1208A>C	ENSP00000384571.1:p.Glu403Ala
ENST00000472011.6:n.1932A>C
ENST00000543662.4:c.1361A>C	ENSP00000439170.1:p.Glu454Ala
ENST00000642339.1:c.*905A>C	ENSP00000495425.1:n.*905A>C
ENST00000642431.1:c.1785A>C
ENST00000642463.1:c.*1106A>C	ENSP00000495007.1:n.*1106A>C
ENST00000642503.1:c.*982A>C	ENSP00000494334.1:n.*982A>C
ENST00000642610.2:c.1208A>C MANE Select	ENSP00000494796.1:p.Glu403Ala
ENST00000642764.1:n.2039A>C
ENST00000643125.1:c.*223A>C	ENSP00000494102.1:n.*223A>C
ENST00000643142.1:c.*699A>C	ENSP00000494755.1:n.*699A>C
ENST00000643238.1:c.*228A>C	ENSP00000495916.1:n.*228A>C
ENST00000643410.1:c.*498A>C	ENSP00000495030.1:n.*498A>C
ENST00000643487.1:n.1895A>C
ENST00000643524.1:c.*793A>C	ENSP00000494026.1:n.*793A>C
ENST00000643615.1:c.*1116+1386A>C	ENSP00000496103.1:n.*1116+1386A>C
ENST00000643993.1:n.1344A>C
ENST00000643994.1:c.*1208A>C	ENSP00000496322.1:n.*1208A>C
ENST00000644037.1:c.*1418A>C	ENSP00000496408.1:n.*1418A>C
ENST00000644055.1:c.*1833A>C	ENSP00000496307.1:n.*1833A>C
ENST00000644126.1:n.2880A>C
ENST00000644217.1:c.1208A>C	ENSP00000494646.1:p.Glu403Ala
ENST00000644265.1:c.577A>C
ENST00000644578.1:c.1022A>C	ENSP00000495953.1:p.Glu341Ala
ENST00000644604.1:c.1208A>C	ENSP00000495961.1:p.Glu403Ala
ENST00000644680.1:c.*1729A>C	ENSP00000496173.1:n.*1729A>C
ENST00000644838.1:c.*591A>C	ENSP00000495910.1:n.*591A>C
ENST00000644910.1:c.1815A>C
ENST00000645205.1:c.1208A>C	ENSP00000495823.1:p.Glu403Ala
ENST00000645351.1:c.1208A>C	ENSP00000494319.1:p.Glu403Ala
ENST00000645551.1:c.*925A>C	ENSP00000495928.1:n.*925A>C
ENST00000645578.1:c.*982A>C	ENSP00000496495.1:n.*982A>C
ENST00000645582.1:c.*1038A>C	ENSP00000494980.1:n.*1038A>C
ENST00000645655.1:c.1208A>C	ENSP00000495202.1:p.Glu403Ala
ENST00000645662.1:c.*667A>C	ENSP00000495964.1:n.*667A>C
ENST00000645836.1:c.*982A>C	ENSP00000493915.1:n.*982A>C
ENST00000645899.1:c.1208A>C	ENSP00000496773.1:p.Glu403Ala
ENST00000645964.1:c.*1074A>C	ENSP00000494208.1:n.*1074A>C
ENST00000646104.1:c.*1676A>C	ENSP00000495475.1:n.*1676A>C
ENST00000646186.1:c.*880A>C	ENSP00000493806.1:n.*880A>C
ENST00000646286.1:c.*1101A>C	ENSP00000494291.1:n.*1101A>C
ENST00000646463.1:c.*973A>C	ENSP00000494541.1:n.*973A>C
ENST00000646528.1:c.*1924A>C	ENSP00000496553.1:n.*1924A>C
ENST00000646536.1:c.*498A>C	ENSP00000494801.1:n.*498A>C
ENST00000646624.1:c.1208A>C	ENSP00000494575.1:p.Glu403Ala
ENST00000646821.1:c.*498A>C	ENSP00000495257.1:n.*498A>C
ENST00000646842.1:n.652A>C
ENST00000646848.1:c.*423A>C	ENSP00000495831.1:n.*423A>C
ENST00000647186.1:c.1208A>C	ENSP00000494775.1:p.Glu403Ala
ENST00000647233.1:n.2188A>C
ENST00000647322.1:c.799A>C
ENST00000647418.1:c.*982A>C	ENSP00000493552.1:n.*982A>C
ENST00000647428.1:c.869A>C	ENSP00000495630.1:p.Glu290Ala
ENST00000651186.1:c.869A>C	ENSP00000498645.1:p.Glu290Ala
ENST00000366601.7:c.1208A>C	ENSP00000355560.3:p.Glu403Ala
ENST00000406207.4:c.1208A>C	ENSP00000384571.1:p.Glu403Ala
ENST00000472011.5:n.1260A>C
ENST00000543662.3:c.1361A>C	ENSP00000439170.1:p.Glu454Ala
NM_001079515.2:c.1208A>C	NP_001072983.1:p.Glu403Ala
NM_001287801.1:c.1361A>C	NP_001274730.1:p.Glu454Ala
NM_001287802.1:c.869A>C	NP_001274731.1:p.Glu290Ala
NM_003193.4:c.1208A>C	NP_003184.1:p.Glu403Ala
NM_003193.5:c.1208A>C MANE Select	NP_003184.1:p.Glu403Ala
NM_001079515.3:c.1208A>C	NP_001072983.1:p.Glu403Ala
NM_001287801.2:c.1361A>C	NP_001274730.1:p.Glu454Ala
NM_001287802.2:c.869A>C	NP_001274731.1:p.Glu290Ala