Canonical Allele Identifier: CA1464376

Gene: TBCE

Linked Data

• ClinVar Variation Id: 1612337
• ClinVar RCV Id: RCV002157988 ; RCV004553771
• dbSNP Id: rs369000163
• ExAC: 1:235602173 G / A
• gnomAD v2: 1-235602173-G-A
• gnomAD v3: 1-235438858-G-A
• gnomAD v4: 1-235438858-G-A
• MyVariant Identifiers: chr1:g.235602173G>A (hg19) ; chr1:g.235438858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438858G>A , CM000663.2:g.235438858G>A	GRCh38
NC_000001.10:g.235602173G>A , CM000663.1:g.235602173G>A	GRCh37
NC_000001.9:g.233668796G>A	NCBI36
NG_009230.1:g.76446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1017G>A	ENSP00000355560.4:p.Pro339=
ENST00000406207.5:c.1206G>A	ENSP00000384571.1:p.Pro402=
ENST00000472011.6:n.1930G>A
ENST00000543662.4:c.1359G>A	ENSP00000439170.1:p.Pro453=
ENST00000642339.1:c.*903G>A	ENSP00000495425.1:n.*903G>A
ENST00000642431.1:c.1783G>A
ENST00000642463.1:c.*1104G>A	ENSP00000495007.1:n.*1104G>A
ENST00000642503.1:c.*980G>A	ENSP00000494334.1:n.*980G>A
ENST00000642610.2:c.1206G>A MANE Select	ENSP00000494796.1:p.Pro402=
ENST00000642764.1:n.2037G>A
ENST00000643125.1:c.*221G>A	ENSP00000494102.1:n.*221G>A
ENST00000643142.1:c.*697G>A	ENSP00000494755.1:n.*697G>A
ENST00000643238.1:c.*226G>A	ENSP00000495916.1:n.*226G>A
ENST00000643410.1:c.*496G>A	ENSP00000495030.1:n.*496G>A
ENST00000643487.1:n.1893G>A
ENST00000643524.1:c.*791G>A	ENSP00000494026.1:n.*791G>A
ENST00000643615.1:c.*1116+1384G>A	ENSP00000496103.1:n.*1116+1384G>A
ENST00000643993.1:n.1342G>A
ENST00000643994.1:c.*1206G>A	ENSP00000496322.1:n.*1206G>A
ENST00000644037.1:c.*1416G>A	ENSP00000496408.1:n.*1416G>A
ENST00000644055.1:c.*1831G>A	ENSP00000496307.1:n.*1831G>A
ENST00000644126.1:n.2878G>A
ENST00000644217.1:c.1206G>A	ENSP00000494646.1:p.Pro402=
ENST00000644265.1:c.575G>A
ENST00000644578.1:c.1020G>A	ENSP00000495953.1:p.Pro340=
ENST00000644604.1:c.1206G>A	ENSP00000495961.1:p.Pro402=
ENST00000644680.1:c.*1727G>A	ENSP00000496173.1:n.*1727G>A
ENST00000644838.1:c.*589G>A	ENSP00000495910.1:n.*589G>A
ENST00000644910.1:c.1813G>A
ENST00000645205.1:c.1206G>A	ENSP00000495823.1:p.Pro402=
ENST00000645351.1:c.1206G>A	ENSP00000494319.1:p.Pro402=
ENST00000645551.1:c.*923G>A	ENSP00000495928.1:n.*923G>A
ENST00000645578.1:c.*980G>A	ENSP00000496495.1:n.*980G>A
ENST00000645582.1:c.*1036G>A	ENSP00000494980.1:n.*1036G>A
ENST00000645655.1:c.1206G>A	ENSP00000495202.1:p.Pro402=
ENST00000645662.1:c.*665G>A	ENSP00000495964.1:n.*665G>A
ENST00000645836.1:c.*980G>A	ENSP00000493915.1:n.*980G>A
ENST00000645899.1:c.1206G>A	ENSP00000496773.1:p.Pro402=
ENST00000645964.1:c.*1072G>A	ENSP00000494208.1:n.*1072G>A
ENST00000646104.1:c.*1674G>A	ENSP00000495475.1:n.*1674G>A
ENST00000646186.1:c.*878G>A	ENSP00000493806.1:n.*878G>A
ENST00000646286.1:c.*1099G>A	ENSP00000494291.1:n.*1099G>A
ENST00000646463.1:c.*971G>A	ENSP00000494541.1:n.*971G>A
ENST00000646528.1:c.*1922G>A	ENSP00000496553.1:n.*1922G>A
ENST00000646536.1:c.*496G>A	ENSP00000494801.1:n.*496G>A
ENST00000646624.1:c.1206G>A	ENSP00000494575.1:p.Pro402=
ENST00000646821.1:c.*496G>A	ENSP00000495257.1:n.*496G>A
ENST00000646842.1:n.650G>A
ENST00000646848.1:c.*421G>A	ENSP00000495831.1:n.*421G>A
ENST00000647186.1:c.1206G>A	ENSP00000494775.1:p.Pro402=
ENST00000647233.1:n.2186G>A
ENST00000647322.1:c.797G>A
ENST00000647418.1:c.*980G>A	ENSP00000493552.1:n.*980G>A
ENST00000647428.1:c.867G>A	ENSP00000495630.1:p.Pro289=
ENST00000651186.1:c.867G>A	ENSP00000498645.1:p.Pro289=
ENST00000366601.7:c.1206G>A	ENSP00000355560.3:p.Pro402=
ENST00000406207.4:c.1206G>A	ENSP00000384571.1:p.Pro402=
ENST00000472011.5:n.1258G>A
ENST00000543662.3:c.1359G>A	ENSP00000439170.1:p.Pro453=
NM_001079515.2:c.1206G>A	NP_001072983.1:p.Pro402=
NM_001287801.1:c.1359G>A	NP_001274730.1:p.Pro453=
NM_001287802.1:c.867G>A	NP_001274731.1:p.Pro289=
NM_003193.4:c.1206G>A	NP_003184.1:p.Pro402=
NM_003193.5:c.1206G>A MANE Select	NP_003184.1:p.Pro402=
NM_001079515.3:c.1206G>A	NP_001072983.1:p.Pro402=
NM_001287801.2:c.1359G>A	NP_001274730.1:p.Pro453=
NM_001287802.2:c.867G>A	NP_001274731.1:p.Pro289=