Canonical Allele Identifier: CA344944942

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602126A>C (hg19) ; chr1:g.235438811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438811A>C , CM000663.2:g.235438811A>C	GRCh38
NC_000001.10:g.235602126A>C , CM000663.1:g.235602126A>C	GRCh37
NC_000001.9:g.233668749A>C	NCBI36
NG_009230.1:g.76399A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.970A>C	ENSP00000355560.4:p.Lys324Gln
ENST00000406207.5:c.1159A>C	ENSP00000384571.1:p.Lys387Gln
ENST00000472011.6:n.1883A>C
ENST00000543662.4:c.1312A>C	ENSP00000439170.1:p.Lys438Gln
ENST00000642339.1:c.*856A>C	ENSP00000495425.1:n.*856A>C
ENST00000642431.1:c.1736A>C
ENST00000642463.1:c.*1057A>C	ENSP00000495007.1:n.*1057A>C
ENST00000642503.1:c.*933A>C	ENSP00000494334.1:n.*933A>C
ENST00000642610.2:c.1159A>C MANE Select	ENSP00000494796.1:p.Lys387Gln
ENST00000642764.1:n.1990A>C
ENST00000643125.1:c.*174A>C	ENSP00000494102.1:n.*174A>C
ENST00000643142.1:c.*650A>C	ENSP00000494755.1:n.*650A>C
ENST00000643238.1:c.*179A>C	ENSP00000495916.1:n.*179A>C
ENST00000643410.1:c.*449A>C	ENSP00000495030.1:n.*449A>C
ENST00000643487.1:n.1846A>C
ENST00000643524.1:c.*744A>C	ENSP00000494026.1:n.*744A>C
ENST00000643615.1:c.*1116+1337A>C	ENSP00000496103.1:n.*1116+1337A>C
ENST00000643993.1:n.1295A>C
ENST00000643994.1:c.*1159A>C	ENSP00000496322.1:n.*1159A>C
ENST00000644037.1:c.*1369A>C	ENSP00000496408.1:n.*1369A>C
ENST00000644055.1:c.*1784A>C	ENSP00000496307.1:n.*1784A>C
ENST00000644126.1:n.2831A>C
ENST00000644217.1:c.1159A>C	ENSP00000494646.1:p.Lys387Gln
ENST00000644265.1:c.528A>C
ENST00000644578.1:c.973A>C	ENSP00000495953.1:p.Lys325Gln
ENST00000644604.1:c.1159A>C	ENSP00000495961.1:p.Lys387Gln
ENST00000644680.1:c.*1680A>C	ENSP00000496173.1:n.*1680A>C
ENST00000644838.1:c.*542A>C	ENSP00000495910.1:n.*542A>C
ENST00000644910.1:c.1766A>C
ENST00000645205.1:c.1159A>C	ENSP00000495823.1:p.Lys387Gln
ENST00000645351.1:c.1159A>C	ENSP00000494319.1:p.Lys387Gln
ENST00000645551.1:c.*876A>C	ENSP00000495928.1:n.*876A>C
ENST00000645578.1:c.*933A>C	ENSP00000496495.1:n.*933A>C
ENST00000645582.1:c.*989A>C	ENSP00000494980.1:n.*989A>C
ENST00000645655.1:c.1159A>C	ENSP00000495202.1:p.Lys387Gln
ENST00000645662.1:c.*618A>C	ENSP00000495964.1:n.*618A>C
ENST00000645836.1:c.*933A>C	ENSP00000493915.1:n.*933A>C
ENST00000645899.1:c.1159A>C	ENSP00000496773.1:p.Lys387Gln
ENST00000645964.1:c.*1025A>C	ENSP00000494208.1:n.*1025A>C
ENST00000646104.1:c.*1627A>C	ENSP00000495475.1:n.*1627A>C
ENST00000646186.1:c.*831A>C	ENSP00000493806.1:n.*831A>C
ENST00000646286.1:c.*1052A>C	ENSP00000494291.1:n.*1052A>C
ENST00000646463.1:c.*924A>C	ENSP00000494541.1:n.*924A>C
ENST00000646528.1:c.*1875A>C	ENSP00000496553.1:n.*1875A>C
ENST00000646536.1:c.*449A>C	ENSP00000494801.1:n.*449A>C
ENST00000646624.1:c.1159A>C	ENSP00000494575.1:p.Lys387Gln
ENST00000646821.1:c.*449A>C	ENSP00000495257.1:n.*449A>C
ENST00000646842.1:n.603A>C
ENST00000646848.1:c.*374A>C	ENSP00000495831.1:n.*374A>C
ENST00000647186.1:c.1159A>C	ENSP00000494775.1:p.Lys387Gln
ENST00000647233.1:n.2139A>C
ENST00000647322.1:c.750A>C
ENST00000647418.1:c.*933A>C	ENSP00000493552.1:n.*933A>C
ENST00000647428.1:c.820A>C	ENSP00000495630.1:p.Lys274Gln
ENST00000651186.1:c.820A>C	ENSP00000498645.1:p.Lys274Gln
ENST00000366601.7:c.1159A>C	ENSP00000355560.3:p.Lys387Gln
ENST00000406207.4:c.1159A>C	ENSP00000384571.1:p.Lys387Gln
ENST00000472011.5:n.1211A>C
ENST00000543662.3:c.1312A>C	ENSP00000439170.1:p.Lys438Gln
NM_001079515.2:c.1159A>C	NP_001072983.1:p.Lys387Gln
NM_001287801.1:c.1312A>C	NP_001274730.1:p.Lys438Gln
NM_001287802.1:c.820A>C	NP_001274731.1:p.Lys274Gln
NM_003193.4:c.1159A>C	NP_003184.1:p.Lys387Gln
NM_003193.5:c.1159A>C MANE Select	NP_003184.1:p.Lys387Gln
NM_001079515.3:c.1159A>C	NP_001072983.1:p.Lys387Gln
NM_001287801.2:c.1312A>C	NP_001274730.1:p.Lys438Gln
NM_001287802.2:c.820A>C	NP_001274731.1:p.Lys274Gln