Canonical Allele Identifier: CA344945488
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438871C>G , CM000663.2:g.235438871C>G GRCh38
NC_000001.10:g.235602186C>G , CM000663.1:g.235602186C>G GRCh37
NC_000001.9:g.233668809C>G NCBI36
NG_009230.1:g.76459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1030C>G ENSP00000355560.4:p.Leu344Val
ENST00000406207.5:c.1219C>G ENSP00000384571.1:p.Leu407Val
ENST00000472011.6:n.1943C>G
ENST00000543662.4:c.1372C>G ENSP00000439170.1:p.Leu458Val
ENST00000642339.1:c.*916C>G ENSP00000495425.1:n.*916C>G
ENST00000642431.1:c.1796C>G
ENST00000642463.1:c.*1117C>G ENSP00000495007.1:n.*1117C>G
ENST00000642503.1:c.*993C>G ENSP00000494334.1:n.*993C>G
ENST00000642610.2:c.1219C>G MANE Select ENSP00000494796.1:p.Leu407Val
ENST00000642764.1:n.2050C>G
ENST00000643125.1:c.*234C>G ENSP00000494102.1:n.*234C>G
ENST00000643142.1:c.*710C>G ENSP00000494755.1:n.*710C>G
ENST00000643238.1:c.*239C>G ENSP00000495916.1:n.*239C>G
ENST00000643410.1:c.*509C>G ENSP00000495030.1:n.*509C>G
ENST00000643487.1:n.1906C>G
ENST00000643524.1:c.*804C>G ENSP00000494026.1:n.*804C>G
ENST00000643615.1:c.*1116+1397C>G ENSP00000496103.1:n.*1116+1397C>G
ENST00000643993.1:n.1355C>G
ENST00000643994.1:c.*1219C>G ENSP00000496322.1:n.*1219C>G
ENST00000644037.1:c.*1429C>G ENSP00000496408.1:n.*1429C>G
ENST00000644055.1:c.*1844C>G ENSP00000496307.1:n.*1844C>G
ENST00000644126.1:n.2891C>G
ENST00000644217.1:c.1219C>G ENSP00000494646.1:p.Leu407Val
ENST00000644265.1:c.588C>G
ENST00000644578.1:c.1033C>G ENSP00000495953.1:p.Leu345Val
ENST00000644604.1:c.1219C>G ENSP00000495961.1:p.Leu407Val
ENST00000644680.1:c.*1740C>G ENSP00000496173.1:n.*1740C>G
ENST00000644838.1:c.*602C>G ENSP00000495910.1:n.*602C>G
ENST00000644910.1:c.1826C>G
ENST00000645205.1:c.1219C>G ENSP00000495823.1:p.Leu407Val
ENST00000645351.1:c.1219C>G ENSP00000494319.1:p.Leu407Val
ENST00000645551.1:c.*936C>G ENSP00000495928.1:n.*936C>G
ENST00000645578.1:c.*993C>G ENSP00000496495.1:n.*993C>G
ENST00000645582.1:c.*1049C>G ENSP00000494980.1:n.*1049C>G
ENST00000645655.1:c.1219C>G ENSP00000495202.1:p.Leu407Val
ENST00000645662.1:c.*678C>G ENSP00000495964.1:n.*678C>G
ENST00000645836.1:c.*993C>G ENSP00000493915.1:n.*993C>G
ENST00000645899.1:c.1219C>G ENSP00000496773.1:p.Leu407Val
ENST00000645964.1:c.*1085C>G ENSP00000494208.1:n.*1085C>G
ENST00000646104.1:c.*1687C>G ENSP00000495475.1:n.*1687C>G
ENST00000646186.1:c.*891C>G ENSP00000493806.1:n.*891C>G
ENST00000646286.1:c.*1112C>G ENSP00000494291.1:n.*1112C>G
ENST00000646463.1:c.*984C>G ENSP00000494541.1:n.*984C>G
ENST00000646528.1:c.*1935C>G ENSP00000496553.1:n.*1935C>G
ENST00000646536.1:c.*509C>G ENSP00000494801.1:n.*509C>G
ENST00000646624.1:c.1219C>G ENSP00000494575.1:p.Leu407Val
ENST00000646821.1:c.*509C>G ENSP00000495257.1:n.*509C>G
ENST00000646842.1:n.663C>G
ENST00000646848.1:c.*434C>G ENSP00000495831.1:n.*434C>G
ENST00000647186.1:c.1219C>G ENSP00000494775.1:p.Leu407Val
ENST00000647233.1:n.2199C>G
ENST00000647322.1:c.810C>G
ENST00000647418.1:c.*993C>G ENSP00000493552.1:n.*993C>G
ENST00000647428.1:c.880C>G ENSP00000495630.1:p.Leu294Val
ENST00000651186.1:c.880C>G ENSP00000498645.1:p.Leu294Val
ENST00000366601.7:c.1219C>G ENSP00000355560.3:p.Leu407Val
ENST00000406207.4:c.1219C>G ENSP00000384571.1:p.Leu407Val
ENST00000472011.5:n.1271C>G
ENST00000543662.3:c.1372C>G ENSP00000439170.1:p.Leu458Val
NM_001079515.2:c.1219C>G NP_001072983.1:p.Leu407Val
NM_001287801.1:c.1372C>G NP_001274730.1:p.Leu458Val
NM_001287802.1:c.880C>G NP_001274731.1:p.Leu294Val
NM_003193.4:c.1219C>G NP_003184.1:p.Leu407Val
NM_003193.5:c.1219C>G MANE Select NP_003184.1:p.Leu407Val
NM_001079515.3:c.1219C>G NP_001072983.1:p.Leu407Val
NM_001287801.2:c.1372C>G NP_001274730.1:p.Leu458Val
NM_001287802.2:c.880C>G NP_001274731.1:p.Leu294Val