Canonical Allele Identifier: CA344945029

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602140T>A (hg19) ; chr1:g.235438825T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438825T>A , CM000663.2:g.235438825T>A	GRCh38
NC_000001.10:g.235602140T>A , CM000663.1:g.235602140T>A	GRCh37
NC_000001.9:g.233668763T>A	NCBI36
NG_009230.1:g.76413T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.984T>A	ENSP00000355560.4:p.Asn328Lys
ENST00000406207.5:c.1173T>A	ENSP00000384571.1:p.Asn391Lys
ENST00000472011.6:n.1897T>A
ENST00000543662.4:c.1326T>A	ENSP00000439170.1:p.Asn442Lys
ENST00000642339.1:c.*870T>A	ENSP00000495425.1:n.*870T>A
ENST00000642431.1:c.1750T>A
ENST00000642463.1:c.*1071T>A	ENSP00000495007.1:n.*1071T>A
ENST00000642503.1:c.*947T>A	ENSP00000494334.1:n.*947T>A
ENST00000642610.2:c.1173T>A MANE Select	ENSP00000494796.1:p.Asn391Lys
ENST00000642764.1:n.2004T>A
ENST00000643125.1:c.*188T>A	ENSP00000494102.1:n.*188T>A
ENST00000643142.1:c.*664T>A	ENSP00000494755.1:n.*664T>A
ENST00000643238.1:c.*193T>A	ENSP00000495916.1:n.*193T>A
ENST00000643410.1:c.*463T>A	ENSP00000495030.1:n.*463T>A
ENST00000643487.1:n.1860T>A
ENST00000643524.1:c.*758T>A	ENSP00000494026.1:n.*758T>A
ENST00000643615.1:c.*1116+1351T>A	ENSP00000496103.1:n.*1116+1351T>A
ENST00000643993.1:n.1309T>A
ENST00000643994.1:c.*1173T>A	ENSP00000496322.1:n.*1173T>A
ENST00000644037.1:c.*1383T>A	ENSP00000496408.1:n.*1383T>A
ENST00000644055.1:c.*1798T>A	ENSP00000496307.1:n.*1798T>A
ENST00000644126.1:n.2845T>A
ENST00000644217.1:c.1173T>A	ENSP00000494646.1:p.Asn391Lys
ENST00000644265.1:c.542T>A
ENST00000644578.1:c.987T>A	ENSP00000495953.1:p.Asn329Lys
ENST00000644604.1:c.1173T>A	ENSP00000495961.1:p.Asn391Lys
ENST00000644680.1:c.*1694T>A	ENSP00000496173.1:n.*1694T>A
ENST00000644838.1:c.*556T>A	ENSP00000495910.1:n.*556T>A
ENST00000644910.1:c.1780T>A
ENST00000645205.1:c.1173T>A	ENSP00000495823.1:p.Asn391Lys
ENST00000645351.1:c.1173T>A	ENSP00000494319.1:p.Asn391Lys
ENST00000645551.1:c.*890T>A	ENSP00000495928.1:n.*890T>A
ENST00000645578.1:c.*947T>A	ENSP00000496495.1:n.*947T>A
ENST00000645582.1:c.*1003T>A	ENSP00000494980.1:n.*1003T>A
ENST00000645655.1:c.1173T>A	ENSP00000495202.1:p.Asn391Lys
ENST00000645662.1:c.*632T>A	ENSP00000495964.1:n.*632T>A
ENST00000645836.1:c.*947T>A	ENSP00000493915.1:n.*947T>A
ENST00000645899.1:c.1173T>A	ENSP00000496773.1:p.Asn391Lys
ENST00000645964.1:c.*1039T>A	ENSP00000494208.1:n.*1039T>A
ENST00000646104.1:c.*1641T>A	ENSP00000495475.1:n.*1641T>A
ENST00000646186.1:c.*845T>A	ENSP00000493806.1:n.*845T>A
ENST00000646286.1:c.*1066T>A	ENSP00000494291.1:n.*1066T>A
ENST00000646463.1:c.*938T>A	ENSP00000494541.1:n.*938T>A
ENST00000646528.1:c.*1889T>A	ENSP00000496553.1:n.*1889T>A
ENST00000646536.1:c.*463T>A	ENSP00000494801.1:n.*463T>A
ENST00000646624.1:c.1173T>A	ENSP00000494575.1:p.Asn391Lys
ENST00000646821.1:c.*463T>A	ENSP00000495257.1:n.*463T>A
ENST00000646842.1:n.617T>A
ENST00000646848.1:c.*388T>A	ENSP00000495831.1:n.*388T>A
ENST00000647186.1:c.1173T>A	ENSP00000494775.1:p.Asn391Lys
ENST00000647233.1:n.2153T>A
ENST00000647322.1:c.764T>A
ENST00000647418.1:c.*947T>A	ENSP00000493552.1:n.*947T>A
ENST00000647428.1:c.834T>A	ENSP00000495630.1:p.Asn278Lys
ENST00000651186.1:c.834T>A	ENSP00000498645.1:p.Asn278Lys
ENST00000366601.7:c.1173T>A	ENSP00000355560.3:p.Asn391Lys
ENST00000406207.4:c.1173T>A	ENSP00000384571.1:p.Asn391Lys
ENST00000472011.5:n.1225T>A
ENST00000543662.3:c.1326T>A	ENSP00000439170.1:p.Asn442Lys
NM_001079515.2:c.1173T>A	NP_001072983.1:p.Asn391Lys
NM_001287801.1:c.1326T>A	NP_001274730.1:p.Asn442Lys
NM_001287802.1:c.834T>A	NP_001274731.1:p.Asn278Lys
NM_003193.4:c.1173T>A	NP_003184.1:p.Asn391Lys
NM_003193.5:c.1173T>A MANE Select	NP_003184.1:p.Asn391Lys
NM_001079515.3:c.1173T>A	NP_001072983.1:p.Asn391Lys
NM_001287801.2:c.1326T>A	NP_001274730.1:p.Asn442Lys
NM_001287802.2:c.834T>A	NP_001274731.1:p.Asn278Lys