Canonical Allele Identifier: CA344946048

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602234C>G (hg19) ; chr1:g.235438919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438919C>G , CM000663.2:g.235438919C>G	GRCh38
NC_000001.10:g.235602234C>G , CM000663.1:g.235602234C>G	GRCh37
NC_000001.9:g.233668857C>G	NCBI36
NG_009230.1:g.76507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1078C>G	ENSP00000355560.4:p.Leu360Val
ENST00000406207.5:c.1267C>G	ENSP00000384571.1:p.Leu423Val
ENST00000472011.6:n.1991C>G
ENST00000543662.4:c.1420C>G	ENSP00000439170.1:p.Leu474Val
ENST00000642339.1:c.*964C>G	ENSP00000495425.1:n.*964C>G
ENST00000642431.1:c.1844C>G
ENST00000642463.1:c.*1165C>G	ENSP00000495007.1:n.*1165C>G
ENST00000642503.1:c.*1041C>G	ENSP00000494334.1:n.*1041C>G
ENST00000642610.2:c.1267C>G MANE Select	ENSP00000494796.1:p.Leu423Val
ENST00000642764.1:n.2098C>G
ENST00000643125.1:c.*282C>G	ENSP00000494102.1:n.*282C>G
ENST00000643142.1:c.*758C>G	ENSP00000494755.1:n.*758C>G
ENST00000643238.1:c.*287C>G	ENSP00000495916.1:n.*287C>G
ENST00000643410.1:c.*557C>G	ENSP00000495030.1:n.*557C>G
ENST00000643487.1:n.1954C>G
ENST00000643524.1:c.*852C>G	ENSP00000494026.1:n.*852C>G
ENST00000643615.1:c.*1116+1445C>G	ENSP00000496103.1:n.*1116+1445C>G
ENST00000643993.1:n.1403C>G
ENST00000643994.1:c.*1267C>G	ENSP00000496322.1:n.*1267C>G
ENST00000644037.1:c.*1477C>G	ENSP00000496408.1:n.*1477C>G
ENST00000644055.1:c.*1892C>G	ENSP00000496307.1:n.*1892C>G
ENST00000644126.1:n.2939C>G
ENST00000644217.1:c.1267C>G	ENSP00000494646.1:p.Leu423Val
ENST00000644265.1:c.636C>G
ENST00000644578.1:c.1081C>G	ENSP00000495953.1:p.Leu361Val
ENST00000644604.1:c.1267C>G	ENSP00000495961.1:p.Leu423Val
ENST00000644680.1:c.*1788C>G	ENSP00000496173.1:n.*1788C>G
ENST00000644838.1:c.*650C>G	ENSP00000495910.1:n.*650C>G
ENST00000644910.1:c.1874C>G
ENST00000645205.1:c.1267C>G	ENSP00000495823.1:p.Leu423Val
ENST00000645351.1:c.1267C>G	ENSP00000494319.1:p.Leu423Val
ENST00000645551.1:c.*984C>G	ENSP00000495928.1:n.*984C>G
ENST00000645578.1:c.*1041C>G	ENSP00000496495.1:n.*1041C>G
ENST00000645582.1:c.*1097C>G	ENSP00000494980.1:n.*1097C>G
ENST00000645655.1:c.1267C>G	ENSP00000495202.1:p.Leu423Val
ENST00000645836.1:c.*1041C>G	ENSP00000493915.1:n.*1041C>G
ENST00000645899.1:c.1267C>G	ENSP00000496773.1:p.Leu423Val
ENST00000645964.1:c.*1133C>G	ENSP00000494208.1:n.*1133C>G
ENST00000646104.1:c.*1735C>G	ENSP00000495475.1:n.*1735C>G
ENST00000646186.1:c.*939C>G	ENSP00000493806.1:n.*939C>G
ENST00000646286.1:c.*1160C>G	ENSP00000494291.1:n.*1160C>G
ENST00000646463.1:c.*1032C>G	ENSP00000494541.1:n.*1032C>G
ENST00000646528.1:c.*1983C>G	ENSP00000496553.1:n.*1983C>G
ENST00000646536.1:c.*557C>G	ENSP00000494801.1:n.*557C>G
ENST00000646624.1:c.1267C>G	ENSP00000494575.1:p.Leu423Val
ENST00000646821.1:c.*557C>G	ENSP00000495257.1:n.*557C>G
ENST00000646842.1:n.711C>G
ENST00000646848.1:c.*482C>G	ENSP00000495831.1:n.*482C>G
ENST00000647186.1:c.1267C>G	ENSP00000494775.1:p.Leu423Val
ENST00000647233.1:n.2247C>G
ENST00000647322.1:c.858C>G
ENST00000647418.1:c.*1041C>G	ENSP00000493552.1:n.*1041C>G
ENST00000647428.1:c.928C>G	ENSP00000495630.1:p.Leu310Val
ENST00000651186.1:c.928C>G	ENSP00000498645.1:p.Leu310Val
ENST00000366601.7:c.1267C>G	ENSP00000355560.3:p.Leu423Val
ENST00000406207.4:c.1267C>G	ENSP00000384571.1:p.Leu423Val
ENST00000472011.5:n.1319C>G
ENST00000543662.3:c.1420C>G	ENSP00000439170.1:p.Leu474Val
NM_001079515.2:c.1267C>G	NP_001072983.1:p.Leu423Val
NM_001287801.1:c.1420C>G	NP_001274730.1:p.Leu474Val
NM_001287802.1:c.928C>G	NP_001274731.1:p.Leu310Val
NM_003193.4:c.1267C>G	NP_003184.1:p.Leu423Val
NM_003193.5:c.1267C>G MANE Select	NP_003184.1:p.Leu423Val
NM_001079515.3:c.1267C>G	NP_001072983.1:p.Leu423Val
NM_001287801.2:c.1420C>G	NP_001274730.1:p.Leu474Val
NM_001287802.2:c.928C>G	NP_001274731.1:p.Leu310Val