Canonical Allele Identifier: CA344943214

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235600788A>G (hg19) ; chr1:g.235437473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437473A>G , CM000663.2:g.235437473A>G	GRCh38
NC_000001.10:g.235600788A>G , CM000663.1:g.235600788A>G	GRCh37
NC_000001.9:g.233667411A>G	NCBI36
NG_009230.1:g.75061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.926A>G	ENSP00000355560.4:p.Glu309Gly
ENST00000406207.5:c.1115A>G	ENSP00000384571.1:p.Glu372Gly
ENST00000472011.6:n.1839A>G
ENST00000543662.4:c.1268A>G	ENSP00000439170.1:p.Glu423Gly
ENST00000642339.1:c.*812A>G	ENSP00000495425.1:n.*812A>G
ENST00000642431.1:c.1692A>G
ENST00000642463.1:c.*1013A>G	ENSP00000495007.1:n.*1013A>G
ENST00000642503.1:c.*889A>G	ENSP00000494334.1:n.*889A>G
ENST00000642610.2:c.1115A>G MANE Select	ENSP00000494796.1:p.Glu372Gly
ENST00000642764.1:n.1946A>G
ENST00000643125.1:c.*130A>G	ENSP00000494102.1:n.*130A>G
ENST00000643142.1:c.*606A>G	ENSP00000494755.1:n.*606A>G
ENST00000643238.1:c.*135A>G	ENSP00000495916.1:n.*135A>G
ENST00000643410.1:c.*405A>G	ENSP00000495030.1:n.*405A>G
ENST00000643487.1:n.1802A>G
ENST00000643524.1:c.*700A>G	ENSP00000494026.1:n.*700A>G
ENST00000643615.1:c.*1115A>G	ENSP00000496103.1:n.*1115A>G
ENST00000643993.1:n.1251A>G
ENST00000643994.1:c.*1115A>G	ENSP00000496322.1:n.*1115A>G
ENST00000644037.1:c.*1325A>G	ENSP00000496408.1:n.*1325A>G
ENST00000644055.1:c.*1740A>G	ENSP00000496307.1:n.*1740A>G
ENST00000644126.1:n.2787A>G
ENST00000644217.1:c.1115A>G	ENSP00000494646.1:p.Glu372Gly
ENST00000644265.1:c.484A>G
ENST00000644578.1:c.929A>G	ENSP00000495953.1:p.Glu310Gly
ENST00000644604.1:c.1115A>G	ENSP00000495961.1:p.Glu372Gly
ENST00000644680.1:c.*1636A>G	ENSP00000496173.1:n.*1636A>G
ENST00000644838.1:c.*498A>G	ENSP00000495910.1:n.*498A>G
ENST00000644910.1:c.1722A>G
ENST00000645205.1:c.1115A>G	ENSP00000495823.1:p.Glu372Gly
ENST00000645351.1:c.1115A>G	ENSP00000494319.1:p.Glu372Gly
ENST00000645551.1:c.*832A>G	ENSP00000495928.1:n.*832A>G
ENST00000645578.1:c.*889A>G	ENSP00000496495.1:n.*889A>G
ENST00000645582.1:c.*945A>G	ENSP00000494980.1:n.*945A>G
ENST00000645655.1:c.1115A>G	ENSP00000495202.1:p.Glu372Gly
ENST00000645662.1:c.*574A>G	ENSP00000495964.1:n.*574A>G
ENST00000645836.1:c.*889A>G	ENSP00000493915.1:n.*889A>G
ENST00000645899.1:c.1115A>G	ENSP00000496773.1:p.Glu372Gly
ENST00000645964.1:c.*981A>G	ENSP00000494208.1:n.*981A>G
ENST00000646104.1:c.*1583A>G	ENSP00000495475.1:n.*1583A>G
ENST00000646186.1:c.*787A>G	ENSP00000493806.1:n.*787A>G
ENST00000646286.1:c.*1008A>G	ENSP00000494291.1:n.*1008A>G
ENST00000646463.1:c.*880A>G	ENSP00000494541.1:n.*880A>G
ENST00000646528.1:c.*1831A>G	ENSP00000496553.1:n.*1831A>G
ENST00000646536.1:c.*405A>G	ENSP00000494801.1:n.*405A>G
ENST00000646624.1:c.1115A>G	ENSP00000494575.1:p.Glu372Gly
ENST00000646821.1:c.*405A>G	ENSP00000495257.1:n.*405A>G
ENST00000646842.1:n.559A>G
ENST00000646848.1:c.*330A>G	ENSP00000495831.1:n.*330A>G
ENST00000647186.1:c.1115A>G	ENSP00000494775.1:p.Glu372Gly
ENST00000647233.1:n.2095A>G
ENST00000647322.1:c.706A>G
ENST00000647418.1:c.*889A>G	ENSP00000493552.1:n.*889A>G
ENST00000647428.1:c.776A>G	ENSP00000495630.1:p.Glu259Gly
ENST00000651186.1:c.776A>G	ENSP00000498645.1:p.Glu259Gly
ENST00000366601.7:c.1115A>G	ENSP00000355560.3:p.Glu372Gly
ENST00000406207.4:c.1115A>G	ENSP00000384571.1:p.Glu372Gly
ENST00000472011.5:n.1167A>G
ENST00000543662.3:c.1268A>G	ENSP00000439170.1:p.Glu423Gly
NM_001079515.2:c.1115A>G	NP_001072983.1:p.Glu372Gly
NM_001287801.1:c.1268A>G	NP_001274730.1:p.Glu423Gly
NM_001287802.1:c.776A>G	NP_001274731.1:p.Glu259Gly
NM_003193.4:c.1115A>G	NP_003184.1:p.Glu372Gly
NM_003193.5:c.1115A>G MANE Select	NP_003184.1:p.Glu372Gly
NM_001079515.3:c.1115A>G	NP_001072983.1:p.Glu372Gly
NM_001287801.2:c.1268A>G	NP_001274730.1:p.Glu423Gly
NM_001287802.2:c.776A>G	NP_001274731.1:p.Glu259Gly