Canonical Allele Identifier: CA423771562

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438774-C-G
• MyVariant Identifiers: chr1:g.235602089C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438774C>G , CM000663.2:g.235438774C>G	GRCh38
NC_000001.10:g.235602089C>G , CM000663.1:g.235602089C>G	GRCh37
NC_000001.9:g.233668712C>G	NCBI36
NG_009230.1:g.76362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.933C>G	ENSP00000355560.4:p.Leu311=
ENST00000406207.5:c.1122C>G	ENSP00000384571.1:p.Leu374=
ENST00000472011.6:n.1846C>G
ENST00000543662.4:c.1275C>G	ENSP00000439170.1:p.Leu425=
ENST00000642339.1:c.*819C>G	ENSP00000495425.1:n.*819C>G
ENST00000642431.1:c.1699C>G
ENST00000642463.1:c.*1020C>G	ENSP00000495007.1:n.*1020C>G
ENST00000642503.1:c.*896C>G	ENSP00000494334.1:n.*896C>G
ENST00000642610.2:c.1122C>G MANE Select	ENSP00000494796.1:p.Leu374=
ENST00000642764.1:n.1953C>G
ENST00000643125.1:c.*137C>G	ENSP00000494102.1:n.*137C>G
ENST00000643142.1:c.*613C>G	ENSP00000494755.1:n.*613C>G
ENST00000643238.1:c.*142C>G	ENSP00000495916.1:n.*142C>G
ENST00000643410.1:c.*412C>G	ENSP00000495030.1:n.*412C>G
ENST00000643487.1:n.1809C>G
ENST00000643524.1:c.*707C>G	ENSP00000494026.1:n.*707C>G
ENST00000643615.1:c.*1116+1300C>G	ENSP00000496103.1:n.*1116+1300C>G
ENST00000643993.1:n.1258C>G
ENST00000643994.1:c.*1122C>G	ENSP00000496322.1:n.*1122C>G
ENST00000644037.1:c.*1332C>G	ENSP00000496408.1:n.*1332C>G
ENST00000644055.1:c.*1747C>G	ENSP00000496307.1:n.*1747C>G
ENST00000644126.1:n.2794C>G
ENST00000644217.1:c.1122C>G	ENSP00000494646.1:p.Leu374=
ENST00000644265.1:c.491C>G
ENST00000644578.1:c.936C>G	ENSP00000495953.1:p.Leu312=
ENST00000644604.1:c.1122C>G	ENSP00000495961.1:p.Leu374=
ENST00000644680.1:c.*1643C>G	ENSP00000496173.1:n.*1643C>G
ENST00000644838.1:c.*505C>G	ENSP00000495910.1:n.*505C>G
ENST00000644910.1:c.1729C>G
ENST00000645205.1:c.1122C>G	ENSP00000495823.1:p.Leu374=
ENST00000645351.1:c.1122C>G	ENSP00000494319.1:p.Leu374=
ENST00000645551.1:c.*839C>G	ENSP00000495928.1:n.*839C>G
ENST00000645578.1:c.*896C>G	ENSP00000496495.1:n.*896C>G
ENST00000645582.1:c.*952C>G	ENSP00000494980.1:n.*952C>G
ENST00000645655.1:c.1122C>G	ENSP00000495202.1:p.Leu374=
ENST00000645662.1:c.*581C>G	ENSP00000495964.1:n.*581C>G
ENST00000645836.1:c.*896C>G	ENSP00000493915.1:n.*896C>G
ENST00000645899.1:c.1122C>G	ENSP00000496773.1:p.Leu374=
ENST00000645964.1:c.*988C>G	ENSP00000494208.1:n.*988C>G
ENST00000646104.1:c.*1590C>G	ENSP00000495475.1:n.*1590C>G
ENST00000646186.1:c.*794C>G	ENSP00000493806.1:n.*794C>G
ENST00000646286.1:c.*1015C>G	ENSP00000494291.1:n.*1015C>G
ENST00000646463.1:c.*887C>G	ENSP00000494541.1:n.*887C>G
ENST00000646528.1:c.*1838C>G	ENSP00000496553.1:n.*1838C>G
ENST00000646536.1:c.*412C>G	ENSP00000494801.1:n.*412C>G
ENST00000646624.1:c.1122C>G	ENSP00000494575.1:p.Leu374=
ENST00000646821.1:c.*412C>G	ENSP00000495257.1:n.*412C>G
ENST00000646842.1:n.566C>G
ENST00000646848.1:c.*337C>G	ENSP00000495831.1:n.*337C>G
ENST00000647186.1:c.1122C>G	ENSP00000494775.1:p.Leu374=
ENST00000647233.1:n.2102C>G
ENST00000647322.1:c.713C>G
ENST00000647418.1:c.*896C>G	ENSP00000493552.1:n.*896C>G
ENST00000647428.1:c.783C>G	ENSP00000495630.1:p.Leu261=
ENST00000651186.1:c.783C>G	ENSP00000498645.1:p.Leu261=
ENST00000366601.7:c.1122C>G	ENSP00000355560.3:p.Leu374=
ENST00000406207.4:c.1122C>G	ENSP00000384571.1:p.Leu374=
ENST00000472011.5:n.1174C>G
ENST00000543662.3:c.1275C>G	ENSP00000439170.1:p.Leu425=
NM_001079515.2:c.1122C>G	NP_001072983.1:p.Leu374=
NM_001287801.1:c.1275C>G	NP_001274730.1:p.Leu425=
NM_001287802.1:c.783C>G	NP_001274731.1:p.Leu261=
NM_003193.4:c.1122C>G	NP_003184.1:p.Leu374=
NM_003193.5:c.1122C>G MANE Select	NP_003184.1:p.Leu374=
NM_001079515.3:c.1122C>G	NP_001072983.1:p.Leu374=
NM_001287801.2:c.1275C>G	NP_001274730.1:p.Leu425=
NM_001287802.2:c.783C>G	NP_001274731.1:p.Leu261=