Canonical Allele Identifier: CA1464385

Gene: TBCE

Linked Data

• ClinVar Variation Id: 296308
• ClinVar RCV Id: RCV000393559 ; RCV001298186
• dbSNP Id: rs750744949
• ExAC: 1:235602220 A / G
• gnomAD v2: 1-235602220-A-G
• gnomAD v3: 1-235438905-A-G
• gnomAD v4: 1-235438905-A-G
• MyVariant Identifiers: chr1:g.235602220A>G (hg19) ; chr1:g.235438905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438905A>G , CM000663.2:g.235438905A>G	GRCh38
NC_000001.10:g.235602220A>G , CM000663.1:g.235602220A>G	GRCh37
NC_000001.9:g.233668843A>G	NCBI36
NG_009230.1:g.76493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1064A>G	ENSP00000355560.4:p.Tyr355Cys
ENST00000406207.5:c.1253A>G	ENSP00000384571.1:p.Tyr418Cys
ENST00000472011.6:n.1977A>G
ENST00000543662.4:c.1406A>G	ENSP00000439170.1:p.Tyr469Cys
ENST00000642339.1:c.*950A>G	ENSP00000495425.1:n.*950A>G
ENST00000642431.1:c.1830A>G
ENST00000642463.1:c.*1151A>G	ENSP00000495007.1:n.*1151A>G
ENST00000642503.1:c.*1027A>G	ENSP00000494334.1:n.*1027A>G
ENST00000642610.2:c.1253A>G MANE Select	ENSP00000494796.1:p.Tyr418Cys
ENST00000642764.1:n.2084A>G
ENST00000643125.1:c.*268A>G	ENSP00000494102.1:n.*268A>G
ENST00000643142.1:c.*744A>G	ENSP00000494755.1:n.*744A>G
ENST00000643238.1:c.*273A>G	ENSP00000495916.1:n.*273A>G
ENST00000643410.1:c.*543A>G	ENSP00000495030.1:n.*543A>G
ENST00000643487.1:n.1940A>G
ENST00000643524.1:c.*838A>G	ENSP00000494026.1:n.*838A>G
ENST00000643615.1:c.*1116+1431A>G	ENSP00000496103.1:n.*1116+1431A>G
ENST00000643993.1:n.1389A>G
ENST00000643994.1:c.*1253A>G	ENSP00000496322.1:n.*1253A>G
ENST00000644037.1:c.*1463A>G	ENSP00000496408.1:n.*1463A>G
ENST00000644055.1:c.*1878A>G	ENSP00000496307.1:n.*1878A>G
ENST00000644126.1:n.2925A>G
ENST00000644217.1:c.1253A>G	ENSP00000494646.1:p.Tyr418Cys
ENST00000644265.1:c.622A>G
ENST00000644578.1:c.1067A>G	ENSP00000495953.1:p.Tyr356Cys
ENST00000644604.1:c.1253A>G	ENSP00000495961.1:p.Tyr418Cys
ENST00000644680.1:c.*1774A>G	ENSP00000496173.1:n.*1774A>G
ENST00000644838.1:c.*636A>G	ENSP00000495910.1:n.*636A>G
ENST00000644910.1:c.1860A>G
ENST00000645205.1:c.1253A>G	ENSP00000495823.1:p.Tyr418Cys
ENST00000645351.1:c.1253A>G	ENSP00000494319.1:p.Tyr418Cys
ENST00000645551.1:c.*970A>G	ENSP00000495928.1:n.*970A>G
ENST00000645578.1:c.*1027A>G	ENSP00000496495.1:n.*1027A>G
ENST00000645582.1:c.*1083A>G	ENSP00000494980.1:n.*1083A>G
ENST00000645655.1:c.1253A>G	ENSP00000495202.1:p.Tyr418Cys
ENST00000645662.1:c.*712A>G	ENSP00000495964.1:n.*712A>G
ENST00000645836.1:c.*1027A>G	ENSP00000493915.1:n.*1027A>G
ENST00000645899.1:c.1253A>G	ENSP00000496773.1:p.Tyr418Cys
ENST00000645964.1:c.*1119A>G	ENSP00000494208.1:n.*1119A>G
ENST00000646104.1:c.*1721A>G	ENSP00000495475.1:n.*1721A>G
ENST00000646186.1:c.*925A>G	ENSP00000493806.1:n.*925A>G
ENST00000646286.1:c.*1146A>G	ENSP00000494291.1:n.*1146A>G
ENST00000646463.1:c.*1018A>G	ENSP00000494541.1:n.*1018A>G
ENST00000646528.1:c.*1969A>G	ENSP00000496553.1:n.*1969A>G
ENST00000646536.1:c.*543A>G	ENSP00000494801.1:n.*543A>G
ENST00000646624.1:c.1253A>G	ENSP00000494575.1:p.Tyr418Cys
ENST00000646821.1:c.*543A>G	ENSP00000495257.1:n.*543A>G
ENST00000646842.1:n.697A>G
ENST00000646848.1:c.*468A>G	ENSP00000495831.1:n.*468A>G
ENST00000647186.1:c.1253A>G	ENSP00000494775.1:p.Tyr418Cys
ENST00000647233.1:n.2233A>G
ENST00000647322.1:c.844A>G
ENST00000647418.1:c.*1027A>G	ENSP00000493552.1:n.*1027A>G
ENST00000647428.1:c.914A>G	ENSP00000495630.1:p.Tyr305Cys
ENST00000651186.1:c.914A>G	ENSP00000498645.1:p.Tyr305Cys
ENST00000366601.7:c.1253A>G	ENSP00000355560.3:p.Tyr418Cys
ENST00000406207.4:c.1253A>G	ENSP00000384571.1:p.Tyr418Cys
ENST00000472011.5:n.1305A>G
ENST00000543662.3:c.1406A>G	ENSP00000439170.1:p.Tyr469Cys
NM_001079515.2:c.1253A>G	NP_001072983.1:p.Tyr418Cys
NM_001287801.1:c.1406A>G	NP_001274730.1:p.Tyr469Cys
NM_001287802.1:c.914A>G	NP_001274731.1:p.Tyr305Cys
NM_003193.4:c.1253A>G	NP_003184.1:p.Tyr418Cys
NM_003193.5:c.1253A>G MANE Select	NP_003184.1:p.Tyr418Cys
NM_001079515.3:c.1253A>G	NP_001072983.1:p.Tyr418Cys
NM_001287801.2:c.1406A>G	NP_001274730.1:p.Tyr469Cys
NM_001287802.2:c.914A>G	NP_001274731.1:p.Tyr305Cys