Canonical Allele Identifier: CA344945598

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602196A>T (hg19) ; chr1:g.235438881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438881A>T , CM000663.2:g.235438881A>T	GRCh38
NC_000001.10:g.235602196A>T , CM000663.1:g.235602196A>T	GRCh37
NC_000001.9:g.233668819A>T	NCBI36
NG_009230.1:g.76469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1040A>T	ENSP00000355560.4:p.Glu347Val
ENST00000406207.5:c.1229A>T	ENSP00000384571.1:p.Glu410Val
ENST00000472011.6:n.1953A>T
ENST00000543662.4:c.1382A>T	ENSP00000439170.1:p.Glu461Val
ENST00000642339.1:c.*926A>T	ENSP00000495425.1:n.*926A>T
ENST00000642431.1:c.1806A>T
ENST00000642463.1:c.*1127A>T	ENSP00000495007.1:n.*1127A>T
ENST00000642503.1:c.*1003A>T	ENSP00000494334.1:n.*1003A>T
ENST00000642610.2:c.1229A>T MANE Select	ENSP00000494796.1:p.Glu410Val
ENST00000642764.1:n.2060A>T
ENST00000643125.1:c.*244A>T	ENSP00000494102.1:n.*244A>T
ENST00000643142.1:c.*720A>T	ENSP00000494755.1:n.*720A>T
ENST00000643238.1:c.*249A>T	ENSP00000495916.1:n.*249A>T
ENST00000643410.1:c.*519A>T	ENSP00000495030.1:n.*519A>T
ENST00000643487.1:n.1916A>T
ENST00000643524.1:c.*814A>T	ENSP00000494026.1:n.*814A>T
ENST00000643615.1:c.*1116+1407A>T	ENSP00000496103.1:n.*1116+1407A>T
ENST00000643993.1:n.1365A>T
ENST00000643994.1:c.*1229A>T	ENSP00000496322.1:n.*1229A>T
ENST00000644037.1:c.*1439A>T	ENSP00000496408.1:n.*1439A>T
ENST00000644055.1:c.*1854A>T	ENSP00000496307.1:n.*1854A>T
ENST00000644126.1:n.2901A>T
ENST00000644217.1:c.1229A>T	ENSP00000494646.1:p.Glu410Val
ENST00000644265.1:c.598A>T
ENST00000644578.1:c.1043A>T	ENSP00000495953.1:p.Glu348Val
ENST00000644604.1:c.1229A>T	ENSP00000495961.1:p.Glu410Val
ENST00000644680.1:c.*1750A>T	ENSP00000496173.1:n.*1750A>T
ENST00000644838.1:c.*612A>T	ENSP00000495910.1:n.*612A>T
ENST00000644910.1:c.1836A>T
ENST00000645205.1:c.1229A>T	ENSP00000495823.1:p.Glu410Val
ENST00000645351.1:c.1229A>T	ENSP00000494319.1:p.Glu410Val
ENST00000645551.1:c.*946A>T	ENSP00000495928.1:n.*946A>T
ENST00000645578.1:c.*1003A>T	ENSP00000496495.1:n.*1003A>T
ENST00000645582.1:c.*1059A>T	ENSP00000494980.1:n.*1059A>T
ENST00000645655.1:c.1229A>T	ENSP00000495202.1:p.Glu410Val
ENST00000645662.1:c.*688A>T	ENSP00000495964.1:n.*688A>T
ENST00000645836.1:c.*1003A>T	ENSP00000493915.1:n.*1003A>T
ENST00000645899.1:c.1229A>T	ENSP00000496773.1:p.Glu410Val
ENST00000645964.1:c.*1095A>T	ENSP00000494208.1:n.*1095A>T
ENST00000646104.1:c.*1697A>T	ENSP00000495475.1:n.*1697A>T
ENST00000646186.1:c.*901A>T	ENSP00000493806.1:n.*901A>T
ENST00000646286.1:c.*1122A>T	ENSP00000494291.1:n.*1122A>T
ENST00000646463.1:c.*994A>T	ENSP00000494541.1:n.*994A>T
ENST00000646528.1:c.*1945A>T	ENSP00000496553.1:n.*1945A>T
ENST00000646536.1:c.*519A>T	ENSP00000494801.1:n.*519A>T
ENST00000646624.1:c.1229A>T	ENSP00000494575.1:p.Glu410Val
ENST00000646821.1:c.*519A>T	ENSP00000495257.1:n.*519A>T
ENST00000646842.1:n.673A>T
ENST00000646848.1:c.*444A>T	ENSP00000495831.1:n.*444A>T
ENST00000647186.1:c.1229A>T	ENSP00000494775.1:p.Glu410Val
ENST00000647233.1:n.2209A>T
ENST00000647322.1:c.820A>T
ENST00000647418.1:c.*1003A>T	ENSP00000493552.1:n.*1003A>T
ENST00000647428.1:c.890A>T	ENSP00000495630.1:p.Glu297Val
ENST00000651186.1:c.890A>T	ENSP00000498645.1:p.Glu297Val
ENST00000366601.7:c.1229A>T	ENSP00000355560.3:p.Glu410Val
ENST00000406207.4:c.1229A>T	ENSP00000384571.1:p.Glu410Val
ENST00000472011.5:n.1281A>T
ENST00000543662.3:c.1382A>T	ENSP00000439170.1:p.Glu461Val
NM_001079515.2:c.1229A>T	NP_001072983.1:p.Glu410Val
NM_001287801.1:c.1382A>T	NP_001274730.1:p.Glu461Val
NM_001287802.1:c.890A>T	NP_001274731.1:p.Glu297Val
NM_003193.4:c.1229A>T	NP_003184.1:p.Glu410Val
NM_003193.5:c.1229A>T MANE Select	NP_003184.1:p.Glu410Val
NM_001079515.3:c.1229A>T	NP_001072983.1:p.Glu410Val
NM_001287801.2:c.1382A>T	NP_001274730.1:p.Glu461Val
NM_001287802.2:c.890A>T	NP_001274731.1:p.Glu297Val