Canonical Allele Identifier: CA344945140

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602150C>A (hg19) ; chr1:g.235438835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438835C>A , CM000663.2:g.235438835C>A	GRCh38
NC_000001.10:g.235602150C>A , CM000663.1:g.235602150C>A	GRCh37
NC_000001.9:g.233668773C>A	NCBI36
NG_009230.1:g.76423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.994C>A	ENSP00000355560.4:p.Gln332Lys
ENST00000406207.5:c.1183C>A	ENSP00000384571.1:p.Gln395Lys
ENST00000472011.6:n.1907C>A
ENST00000543662.4:c.1336C>A	ENSP00000439170.1:p.Gln446Lys
ENST00000642339.1:c.*880C>A	ENSP00000495425.1:n.*880C>A
ENST00000642431.1:c.1760C>A
ENST00000642463.1:c.*1081C>A	ENSP00000495007.1:n.*1081C>A
ENST00000642503.1:c.*957C>A	ENSP00000494334.1:n.*957C>A
ENST00000642610.2:c.1183C>A MANE Select	ENSP00000494796.1:p.Gln395Lys
ENST00000642764.1:n.2014C>A
ENST00000643125.1:c.*198C>A	ENSP00000494102.1:n.*198C>A
ENST00000643142.1:c.*674C>A	ENSP00000494755.1:n.*674C>A
ENST00000643238.1:c.*203C>A	ENSP00000495916.1:n.*203C>A
ENST00000643410.1:c.*473C>A	ENSP00000495030.1:n.*473C>A
ENST00000643487.1:n.1870C>A
ENST00000643524.1:c.*768C>A	ENSP00000494026.1:n.*768C>A
ENST00000643615.1:c.*1116+1361C>A	ENSP00000496103.1:n.*1116+1361C>A
ENST00000643993.1:n.1319C>A
ENST00000643994.1:c.*1183C>A	ENSP00000496322.1:n.*1183C>A
ENST00000644037.1:c.*1393C>A	ENSP00000496408.1:n.*1393C>A
ENST00000644055.1:c.*1808C>A	ENSP00000496307.1:n.*1808C>A
ENST00000644126.1:n.2855C>A
ENST00000644217.1:c.1183C>A	ENSP00000494646.1:p.Gln395Lys
ENST00000644265.1:c.552C>A
ENST00000644578.1:c.997C>A	ENSP00000495953.1:p.Gln333Lys
ENST00000644604.1:c.1183C>A	ENSP00000495961.1:p.Gln395Lys
ENST00000644680.1:c.*1704C>A	ENSP00000496173.1:n.*1704C>A
ENST00000644838.1:c.*566C>A	ENSP00000495910.1:n.*566C>A
ENST00000644910.1:c.1790C>A
ENST00000645205.1:c.1183C>A	ENSP00000495823.1:p.Gln395Lys
ENST00000645351.1:c.1183C>A	ENSP00000494319.1:p.Gln395Lys
ENST00000645551.1:c.*900C>A	ENSP00000495928.1:n.*900C>A
ENST00000645578.1:c.*957C>A	ENSP00000496495.1:n.*957C>A
ENST00000645582.1:c.*1013C>A	ENSP00000494980.1:n.*1013C>A
ENST00000645655.1:c.1183C>A	ENSP00000495202.1:p.Gln395Lys
ENST00000645662.1:c.*642C>A	ENSP00000495964.1:n.*642C>A
ENST00000645836.1:c.*957C>A	ENSP00000493915.1:n.*957C>A
ENST00000645899.1:c.1183C>A	ENSP00000496773.1:p.Gln395Lys
ENST00000645964.1:c.*1049C>A	ENSP00000494208.1:n.*1049C>A
ENST00000646104.1:c.*1651C>A	ENSP00000495475.1:n.*1651C>A
ENST00000646186.1:c.*855C>A	ENSP00000493806.1:n.*855C>A
ENST00000646286.1:c.*1076C>A	ENSP00000494291.1:n.*1076C>A
ENST00000646463.1:c.*948C>A	ENSP00000494541.1:n.*948C>A
ENST00000646528.1:c.*1899C>A	ENSP00000496553.1:n.*1899C>A
ENST00000646536.1:c.*473C>A	ENSP00000494801.1:n.*473C>A
ENST00000646624.1:c.1183C>A	ENSP00000494575.1:p.Gln395Lys
ENST00000646821.1:c.*473C>A	ENSP00000495257.1:n.*473C>A
ENST00000646842.1:n.627C>A
ENST00000646848.1:c.*398C>A	ENSP00000495831.1:n.*398C>A
ENST00000647186.1:c.1183C>A	ENSP00000494775.1:p.Gln395Lys
ENST00000647233.1:n.2163C>A
ENST00000647322.1:c.774C>A
ENST00000647418.1:c.*957C>A	ENSP00000493552.1:n.*957C>A
ENST00000647428.1:c.844C>A	ENSP00000495630.1:p.Gln282Lys
ENST00000651186.1:c.844C>A	ENSP00000498645.1:p.Gln282Lys
ENST00000366601.7:c.1183C>A	ENSP00000355560.3:p.Gln395Lys
ENST00000406207.4:c.1183C>A	ENSP00000384571.1:p.Gln395Lys
ENST00000472011.5:n.1235C>A
ENST00000543662.3:c.1336C>A	ENSP00000439170.1:p.Gln446Lys
NM_001079515.2:c.1183C>A	NP_001072983.1:p.Gln395Lys
NM_001287801.1:c.1336C>A	NP_001274730.1:p.Gln446Lys
NM_001287802.1:c.844C>A	NP_001274731.1:p.Gln282Lys
NM_003193.4:c.1183C>A	NP_003184.1:p.Gln395Lys
NM_003193.5:c.1183C>A MANE Select	NP_003184.1:p.Gln395Lys
NM_001079515.3:c.1183C>A	NP_001072983.1:p.Gln395Lys
NM_001287801.2:c.1336C>A	NP_001274730.1:p.Gln446Lys
NM_001287802.2:c.844C>A	NP_001274731.1:p.Gln282Lys