Canonical Allele Identifier: CA344944909

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602118A>T (hg19) ; chr1:g.235438803A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438803A>T , CM000663.2:g.235438803A>T	GRCh38
NC_000001.10:g.235602118A>T , CM000663.1:g.235602118A>T	GRCh37
NC_000001.9:g.233668741A>T	NCBI36
NG_009230.1:g.76391A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.962A>T	ENSP00000355560.4:p.Asp321Val
ENST00000406207.5:c.1151A>T	ENSP00000384571.1:p.Asp384Val
ENST00000472011.6:n.1875A>T
ENST00000543662.4:c.1304A>T	ENSP00000439170.1:p.Asp435Val
ENST00000642339.1:c.*848A>T	ENSP00000495425.1:n.*848A>T
ENST00000642431.1:c.1728A>T
ENST00000642463.1:c.*1049A>T	ENSP00000495007.1:n.*1049A>T
ENST00000642503.1:c.*925A>T	ENSP00000494334.1:n.*925A>T
ENST00000642610.2:c.1151A>T MANE Select	ENSP00000494796.1:p.Asp384Val
ENST00000642764.1:n.1982A>T
ENST00000643125.1:c.*166A>T	ENSP00000494102.1:n.*166A>T
ENST00000643142.1:c.*642A>T	ENSP00000494755.1:n.*642A>T
ENST00000643238.1:c.*171A>T	ENSP00000495916.1:n.*171A>T
ENST00000643410.1:c.*441A>T	ENSP00000495030.1:n.*441A>T
ENST00000643487.1:n.1838A>T
ENST00000643524.1:c.*736A>T	ENSP00000494026.1:n.*736A>T
ENST00000643615.1:c.*1116+1329A>T	ENSP00000496103.1:n.*1116+1329A>T
ENST00000643993.1:n.1287A>T
ENST00000643994.1:c.*1151A>T	ENSP00000496322.1:n.*1151A>T
ENST00000644037.1:c.*1361A>T	ENSP00000496408.1:n.*1361A>T
ENST00000644055.1:c.*1776A>T	ENSP00000496307.1:n.*1776A>T
ENST00000644126.1:n.2823A>T
ENST00000644217.1:c.1151A>T	ENSP00000494646.1:p.Asp384Val
ENST00000644265.1:c.520A>T
ENST00000644578.1:c.965A>T	ENSP00000495953.1:p.Asp322Val
ENST00000644604.1:c.1151A>T	ENSP00000495961.1:p.Asp384Val
ENST00000644680.1:c.*1672A>T	ENSP00000496173.1:n.*1672A>T
ENST00000644838.1:c.*534A>T	ENSP00000495910.1:n.*534A>T
ENST00000644910.1:c.1758A>T
ENST00000645205.1:c.1151A>T	ENSP00000495823.1:p.Asp384Val
ENST00000645351.1:c.1151A>T	ENSP00000494319.1:p.Asp384Val
ENST00000645551.1:c.*868A>T	ENSP00000495928.1:n.*868A>T
ENST00000645578.1:c.*925A>T	ENSP00000496495.1:n.*925A>T
ENST00000645582.1:c.*981A>T	ENSP00000494980.1:n.*981A>T
ENST00000645655.1:c.1151A>T	ENSP00000495202.1:p.Asp384Val
ENST00000645662.1:c.*610A>T	ENSP00000495964.1:n.*610A>T
ENST00000645836.1:c.*925A>T	ENSP00000493915.1:n.*925A>T
ENST00000645899.1:c.1151A>T	ENSP00000496773.1:p.Asp384Val
ENST00000645964.1:c.*1017A>T	ENSP00000494208.1:n.*1017A>T
ENST00000646104.1:c.*1619A>T	ENSP00000495475.1:n.*1619A>T
ENST00000646186.1:c.*823A>T	ENSP00000493806.1:n.*823A>T
ENST00000646286.1:c.*1044A>T	ENSP00000494291.1:n.*1044A>T
ENST00000646463.1:c.*916A>T	ENSP00000494541.1:n.*916A>T
ENST00000646528.1:c.*1867A>T	ENSP00000496553.1:n.*1867A>T
ENST00000646536.1:c.*441A>T	ENSP00000494801.1:n.*441A>T
ENST00000646624.1:c.1151A>T	ENSP00000494575.1:p.Asp384Val
ENST00000646821.1:c.*441A>T	ENSP00000495257.1:n.*441A>T
ENST00000646842.1:n.595A>T
ENST00000646848.1:c.*366A>T	ENSP00000495831.1:n.*366A>T
ENST00000647186.1:c.1151A>T	ENSP00000494775.1:p.Asp384Val
ENST00000647233.1:n.2131A>T
ENST00000647322.1:c.742A>T
ENST00000647418.1:c.*925A>T	ENSP00000493552.1:n.*925A>T
ENST00000647428.1:c.812A>T	ENSP00000495630.1:p.Asp271Val
ENST00000651186.1:c.812A>T	ENSP00000498645.1:p.Asp271Val
ENST00000366601.7:c.1151A>T	ENSP00000355560.3:p.Asp384Val
ENST00000406207.4:c.1151A>T	ENSP00000384571.1:p.Asp384Val
ENST00000472011.5:n.1203A>T
ENST00000543662.3:c.1304A>T	ENSP00000439170.1:p.Asp435Val
NM_001079515.2:c.1151A>T	NP_001072983.1:p.Asp384Val
NM_001287801.1:c.1304A>T	NP_001274730.1:p.Asp435Val
NM_001287802.1:c.812A>T	NP_001274731.1:p.Asp271Val
NM_003193.4:c.1151A>T	NP_003184.1:p.Asp384Val
NM_003193.5:c.1151A>T MANE Select	NP_003184.1:p.Asp384Val
NM_001079515.3:c.1151A>T	NP_001072983.1:p.Asp384Val
NM_001287801.2:c.1304A>T	NP_001274730.1:p.Asp435Val
NM_001287802.2:c.812A>T	NP_001274731.1:p.Asp271Val