Canonical Allele Identifier: CA1464178

Gene: TBCE

Linked Data

• ClinVar Variation Id: 296298
• ClinVar RCV Id: RCV000388661 ; RCV002059461
• dbSNP Id: rs181223923
• ExAC: 1:235597606 C / T
• gnomAD v2: 1-235597606-C-T
• gnomAD v3: 1-235434291-C-T
• gnomAD v4: 1-235434291-C-T
• MyVariant Identifiers: chr1:g.235597606C>T (hg19) ; chr1:g.235434291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235434291C>T , CM000663.2:g.235434291C>T	GRCh38
NC_000001.10:g.235597606C>T , CM000663.1:g.235597606C>T	GRCh37
NC_000001.9:g.233664229C>T	NCBI36
NG_009230.1:g.71879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.548+11C>T	ENSP00000355560.4:n.548+11C>T
ENST00000406207.5:c.737+11C>T	ENSP00000384571.1:n.737+11C>T
ENST00000472011.6:n.823+11C>T
ENST00000543662.4:c.890+11C>T	ENSP00000439170.1:n.890+11C>T
ENST00000642339.1:c.*435-1454C>T	ENSP00000495425.1:n.*435-1454C>T
ENST00000642372.1:c.444+11C>T
ENST00000642431.1:c.1314+11C>T
ENST00000642463.1:c.*635+11C>T	ENSP00000495007.1:n.*635+11C>T
ENST00000642503.1:c.*511+11C>T	ENSP00000494334.1:n.*511+11C>T
ENST00000642610.2:c.737+11C>T MANE Select	ENSP00000494796.1:n.737+11C>T
ENST00000642764.1:n.930+11C>T
ENST00000642981.1:n.126+11C>T
ENST00000643125.1:c.737+11C>T	ENSP00000494102.1:n.737+11C>T
ENST00000643142.1:c.*228+11C>T	ENSP00000494755.1:n.*228+11C>T
ENST00000643238.1:c.637+11C>T	ENSP00000495916.1:n.637+11C>T
ENST00000643410.1:c.*27+11C>T	ENSP00000495030.1:n.*27+11C>T
ENST00000643418.1:c.*511+11C>T	ENSP00000495711.1:n.*511+11C>T
ENST00000643487.1:n.1424+11C>T
ENST00000643524.1:c.*322+11C>T	ENSP00000494026.1:n.*322+11C>T
ENST00000643615.1:c.*737+11C>T	ENSP00000496103.1:n.*737+11C>T
ENST00000643993.1:n.780+11C>T
ENST00000643994.1:c.*737+11C>T	ENSP00000496322.1:n.*737+11C>T
ENST00000644037.1:c.*309+11C>T	ENSP00000496408.1:n.*309+11C>T
ENST00000644055.1:c.*1362+11C>T	ENSP00000496307.1:n.*1362+11C>T
ENST00000644126.1:n.1771+11C>T
ENST00000644217.1:c.737+11C>T	ENSP00000494646.1:n.737+11C>T
ENST00000644265.1:c.332+11C>T
ENST00000644578.1:c.551+11C>T	ENSP00000495953.1:n.551+11C>T
ENST00000644604.1:c.737+11C>T	ENSP00000495961.1:n.737+11C>T
ENST00000644680.1:c.*1258+11C>T	ENSP00000496173.1:n.*1258+11C>T
ENST00000644838.1:c.*27+11C>T	ENSP00000495910.1:n.*27+11C>T
ENST00000644910.1:c.706+11C>T
ENST00000645205.1:c.737+11C>T	ENSP00000495823.1:n.737+11C>T
ENST00000645351.1:c.737+11C>T	ENSP00000494319.1:n.737+11C>T
ENST00000645551.1:c.*454+11C>T	ENSP00000495928.1:n.*454+11C>T
ENST00000645578.1:c.*511+11C>T	ENSP00000496495.1:n.*511+11C>T
ENST00000645582.1:c.*567+11C>T	ENSP00000494980.1:n.*567+11C>T
ENST00000645655.1:c.737+11C>T	ENSP00000495202.1:n.737+11C>T
ENST00000645662.1:c.*422+11C>T	ENSP00000495964.1:n.*422+11C>T
ENST00000645836.1:c.*511+11C>T	ENSP00000493915.1:n.*511+11C>T
ENST00000645899.1:c.737+11C>T	ENSP00000496773.1:n.737+11C>T
ENST00000645964.1:c.448+11C>T	ENSP00000494208.1:n.448+11C>T
ENST00000646104.1:c.*567+11C>T	ENSP00000495475.1:n.*567+11C>T
ENST00000646186.1:c.*409+11C>T	ENSP00000493806.1:n.*409+11C>T
ENST00000646281.1:c.737+11C>T	ENSP00000495225.1:n.737+11C>T
ENST00000646286.1:c.*630+11C>T	ENSP00000494291.1:n.*630+11C>T
ENST00000646463.1:c.*409+11C>T	ENSP00000494541.1:n.*409+11C>T
ENST00000646528.1:c.*1453+11C>T	ENSP00000496553.1:n.*1453+11C>T
ENST00000646536.1:c.*27+11C>T	ENSP00000494801.1:n.*27+11C>T
ENST00000646624.1:c.737+11C>T	ENSP00000494575.1:n.737+11C>T
ENST00000646821.1:c.*27+11C>T	ENSP00000495257.1:n.*27+11C>T
ENST00000646842.1:n.407+11C>T
ENST00000646848.1:c.661-1454C>T	ENSP00000495831.1:n.661-1454C>T
ENST00000647186.1:c.737+11C>T	ENSP00000494775.1:n.737+11C>T
ENST00000647233.1:n.1079+11C>T
ENST00000647322.1:c.554+11C>T
ENST00000647332.1:c.*222+11C>T	ENSP00000495024.1:n.*222+11C>T
ENST00000647418.1:c.*511+11C>T	ENSP00000493552.1:n.*511+11C>T
ENST00000647428.1:c.398+11C>T	ENSP00000495630.1:n.398+11C>T
ENST00000651186.1:c.398+11C>T	ENSP00000498645.1:n.398+11C>T
ENST00000366601.7:c.737+11C>T	ENSP00000355560.3:n.737+11C>T
ENST00000406207.4:c.737+11C>T	ENSP00000384571.1:n.737+11C>T
ENST00000472011.5:n.789+11C>T
ENST00000482230.5:n.952+11C>T
ENST00000543662.3:c.890+11C>T	ENSP00000439170.1:n.890+11C>T
NM_001079515.2:c.737+11C>T	NP_001072983.1:n.737+11C>T
NM_001287801.1:c.890+11C>T	NP_001274730.1:n.890+11C>T
NM_001287802.1:c.398+11C>T	NP_001274731.1:n.398+11C>T
NM_003193.4:c.737+11C>T	NP_003184.1:n.737+11C>T
NM_003193.5:c.737+11C>T MANE Select	NP_003184.1:n.737+11C>T
NM_001079515.3:c.737+11C>T	NP_001072983.1:n.737+11C>T
NM_001287801.2:c.890+11C>T	NP_001274730.1:n.890+11C>T
NM_001287802.2:c.398+11C>T	NP_001274731.1:n.398+11C>T