Canonical Allele Identifier: CA1464367

Gene: TBCE

Linked Data

• dbSNP Id: rs772337546
• ExAC: 1:235602139 A / G
• gnomAD v2: 1-235602139-A-G
• gnomAD v3: 1-235438824-A-G
• gnomAD v4: 1-235438824-A-G
• MyVariant Identifiers: chr1:g.235602139A>G (hg19) ; chr1:g.235438824A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438824A>G , CM000663.2:g.235438824A>G	GRCh38
NC_000001.10:g.235602139A>G , CM000663.1:g.235602139A>G	GRCh37
NC_000001.9:g.233668762A>G	NCBI36
NG_009230.1:g.76412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.983A>G	ENSP00000355560.4:p.Asn328Ser
ENST00000406207.5:c.1172A>G	ENSP00000384571.1:p.Asn391Ser
ENST00000472011.6:n.1896A>G
ENST00000543662.4:c.1325A>G	ENSP00000439170.1:p.Asn442Ser
ENST00000642339.1:c.*869A>G	ENSP00000495425.1:n.*869A>G
ENST00000642431.1:c.1749A>G
ENST00000642463.1:c.*1070A>G	ENSP00000495007.1:n.*1070A>G
ENST00000642503.1:c.*946A>G	ENSP00000494334.1:n.*946A>G
ENST00000642610.2:c.1172A>G MANE Select	ENSP00000494796.1:p.Asn391Ser
ENST00000642764.1:n.2003A>G
ENST00000643125.1:c.*187A>G	ENSP00000494102.1:n.*187A>G
ENST00000643142.1:c.*663A>G	ENSP00000494755.1:n.*663A>G
ENST00000643238.1:c.*192A>G	ENSP00000495916.1:n.*192A>G
ENST00000643410.1:c.*462A>G	ENSP00000495030.1:n.*462A>G
ENST00000643487.1:n.1859A>G
ENST00000643524.1:c.*757A>G	ENSP00000494026.1:n.*757A>G
ENST00000643615.1:c.*1116+1350A>G	ENSP00000496103.1:n.*1116+1350A>G
ENST00000643993.1:n.1308A>G
ENST00000643994.1:c.*1172A>G	ENSP00000496322.1:n.*1172A>G
ENST00000644037.1:c.*1382A>G	ENSP00000496408.1:n.*1382A>G
ENST00000644055.1:c.*1797A>G	ENSP00000496307.1:n.*1797A>G
ENST00000644126.1:n.2844A>G
ENST00000644217.1:c.1172A>G	ENSP00000494646.1:p.Asn391Ser
ENST00000644265.1:c.541A>G
ENST00000644578.1:c.986A>G	ENSP00000495953.1:p.Asn329Ser
ENST00000644604.1:c.1172A>G	ENSP00000495961.1:p.Asn391Ser
ENST00000644680.1:c.*1693A>G	ENSP00000496173.1:n.*1693A>G
ENST00000644838.1:c.*555A>G	ENSP00000495910.1:n.*555A>G
ENST00000644910.1:c.1779A>G
ENST00000645205.1:c.1172A>G	ENSP00000495823.1:p.Asn391Ser
ENST00000645351.1:c.1172A>G	ENSP00000494319.1:p.Asn391Ser
ENST00000645551.1:c.*889A>G	ENSP00000495928.1:n.*889A>G
ENST00000645578.1:c.*946A>G	ENSP00000496495.1:n.*946A>G
ENST00000645582.1:c.*1002A>G	ENSP00000494980.1:n.*1002A>G
ENST00000645655.1:c.1172A>G	ENSP00000495202.1:p.Asn391Ser
ENST00000645662.1:c.*631A>G	ENSP00000495964.1:n.*631A>G
ENST00000645836.1:c.*946A>G	ENSP00000493915.1:n.*946A>G
ENST00000645899.1:c.1172A>G	ENSP00000496773.1:p.Asn391Ser
ENST00000645964.1:c.*1038A>G	ENSP00000494208.1:n.*1038A>G
ENST00000646104.1:c.*1640A>G	ENSP00000495475.1:n.*1640A>G
ENST00000646186.1:c.*844A>G	ENSP00000493806.1:n.*844A>G
ENST00000646286.1:c.*1065A>G	ENSP00000494291.1:n.*1065A>G
ENST00000646463.1:c.*937A>G	ENSP00000494541.1:n.*937A>G
ENST00000646528.1:c.*1888A>G	ENSP00000496553.1:n.*1888A>G
ENST00000646536.1:c.*462A>G	ENSP00000494801.1:n.*462A>G
ENST00000646624.1:c.1172A>G	ENSP00000494575.1:p.Asn391Ser
ENST00000646821.1:c.*462A>G	ENSP00000495257.1:n.*462A>G
ENST00000646842.1:n.616A>G
ENST00000646848.1:c.*387A>G	ENSP00000495831.1:n.*387A>G
ENST00000647186.1:c.1172A>G	ENSP00000494775.1:p.Asn391Ser
ENST00000647233.1:n.2152A>G
ENST00000647322.1:c.763A>G
ENST00000647418.1:c.*946A>G	ENSP00000493552.1:n.*946A>G
ENST00000647428.1:c.833A>G	ENSP00000495630.1:p.Asn278Ser
ENST00000651186.1:c.833A>G	ENSP00000498645.1:p.Asn278Ser
ENST00000366601.7:c.1172A>G	ENSP00000355560.3:p.Asn391Ser
ENST00000406207.4:c.1172A>G	ENSP00000384571.1:p.Asn391Ser
ENST00000472011.5:n.1224A>G
ENST00000543662.3:c.1325A>G	ENSP00000439170.1:p.Asn442Ser
NM_001079515.2:c.1172A>G	NP_001072983.1:p.Asn391Ser
NM_001287801.1:c.1325A>G	NP_001274730.1:p.Asn442Ser
NM_001287802.1:c.833A>G	NP_001274731.1:p.Asn278Ser
NM_003193.4:c.1172A>G	NP_003184.1:p.Asn391Ser
NM_003193.5:c.1172A>G MANE Select	NP_003184.1:p.Asn391Ser
NM_001079515.3:c.1172A>G	NP_001072983.1:p.Asn391Ser
NM_001287801.2:c.1325A>G	NP_001274730.1:p.Asn442Ser
NM_001287802.2:c.833A>G	NP_001274731.1:p.Asn278Ser