Canonical Allele Identifier: CA344945720

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602207G>C (hg19) ; chr1:g.235438892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438892G>C , CM000663.2:g.235438892G>C	GRCh38
NC_000001.10:g.235602207G>C , CM000663.1:g.235602207G>C	GRCh37
NC_000001.9:g.233668830G>C	NCBI36
NG_009230.1:g.76480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1051G>C	ENSP00000355560.4:p.Ala351Pro
ENST00000406207.5:c.1240G>C	ENSP00000384571.1:p.Ala414Pro
ENST00000472011.6:n.1964G>C
ENST00000543662.4:c.1393G>C	ENSP00000439170.1:p.Ala465Pro
ENST00000642339.1:c.*937G>C	ENSP00000495425.1:n.*937G>C
ENST00000642431.1:c.1817G>C
ENST00000642463.1:c.*1138G>C	ENSP00000495007.1:n.*1138G>C
ENST00000642503.1:c.*1014G>C	ENSP00000494334.1:n.*1014G>C
ENST00000642610.2:c.1240G>C MANE Select	ENSP00000494796.1:p.Ala414Pro
ENST00000642764.1:n.2071G>C
ENST00000643125.1:c.*255G>C	ENSP00000494102.1:n.*255G>C
ENST00000643142.1:c.*731G>C	ENSP00000494755.1:n.*731G>C
ENST00000643238.1:c.*260G>C	ENSP00000495916.1:n.*260G>C
ENST00000643410.1:c.*530G>C	ENSP00000495030.1:n.*530G>C
ENST00000643487.1:n.1927G>C
ENST00000643524.1:c.*825G>C	ENSP00000494026.1:n.*825G>C
ENST00000643615.1:c.*1116+1418G>C	ENSP00000496103.1:n.*1116+1418G>C
ENST00000643993.1:n.1376G>C
ENST00000643994.1:c.*1240G>C	ENSP00000496322.1:n.*1240G>C
ENST00000644037.1:c.*1450G>C	ENSP00000496408.1:n.*1450G>C
ENST00000644055.1:c.*1865G>C	ENSP00000496307.1:n.*1865G>C
ENST00000644126.1:n.2912G>C
ENST00000644217.1:c.1240G>C	ENSP00000494646.1:p.Ala414Pro
ENST00000644265.1:c.609G>C
ENST00000644578.1:c.1054G>C	ENSP00000495953.1:p.Ala352Pro
ENST00000644604.1:c.1240G>C	ENSP00000495961.1:p.Ala414Pro
ENST00000644680.1:c.*1761G>C	ENSP00000496173.1:n.*1761G>C
ENST00000644838.1:c.*623G>C	ENSP00000495910.1:n.*623G>C
ENST00000644910.1:c.1847G>C
ENST00000645205.1:c.1240G>C	ENSP00000495823.1:p.Ala414Pro
ENST00000645351.1:c.1240G>C	ENSP00000494319.1:p.Ala414Pro
ENST00000645551.1:c.*957G>C	ENSP00000495928.1:n.*957G>C
ENST00000645578.1:c.*1014G>C	ENSP00000496495.1:n.*1014G>C
ENST00000645582.1:c.*1070G>C	ENSP00000494980.1:n.*1070G>C
ENST00000645655.1:c.1240G>C	ENSP00000495202.1:p.Ala414Pro
ENST00000645662.1:c.*699G>C	ENSP00000495964.1:n.*699G>C
ENST00000645836.1:c.*1014G>C	ENSP00000493915.1:n.*1014G>C
ENST00000645899.1:c.1240G>C	ENSP00000496773.1:p.Ala414Pro
ENST00000645964.1:c.*1106G>C	ENSP00000494208.1:n.*1106G>C
ENST00000646104.1:c.*1708G>C	ENSP00000495475.1:n.*1708G>C
ENST00000646186.1:c.*912G>C	ENSP00000493806.1:n.*912G>C
ENST00000646286.1:c.*1133G>C	ENSP00000494291.1:n.*1133G>C
ENST00000646463.1:c.*1005G>C	ENSP00000494541.1:n.*1005G>C
ENST00000646528.1:c.*1956G>C	ENSP00000496553.1:n.*1956G>C
ENST00000646536.1:c.*530G>C	ENSP00000494801.1:n.*530G>C
ENST00000646624.1:c.1240G>C	ENSP00000494575.1:p.Ala414Pro
ENST00000646821.1:c.*530G>C	ENSP00000495257.1:n.*530G>C
ENST00000646842.1:n.684G>C
ENST00000646848.1:c.*455G>C	ENSP00000495831.1:n.*455G>C
ENST00000647186.1:c.1240G>C	ENSP00000494775.1:p.Ala414Pro
ENST00000647233.1:n.2220G>C
ENST00000647322.1:c.831G>C
ENST00000647418.1:c.*1014G>C	ENSP00000493552.1:n.*1014G>C
ENST00000647428.1:c.901G>C	ENSP00000495630.1:p.Ala301Pro
ENST00000651186.1:c.901G>C	ENSP00000498645.1:p.Ala301Pro
ENST00000366601.7:c.1240G>C	ENSP00000355560.3:p.Ala414Pro
ENST00000406207.4:c.1240G>C	ENSP00000384571.1:p.Ala414Pro
ENST00000472011.5:n.1292G>C
ENST00000543662.3:c.1393G>C	ENSP00000439170.1:p.Ala465Pro
NM_001079515.2:c.1240G>C	NP_001072983.1:p.Ala414Pro
NM_001287801.1:c.1393G>C	NP_001274730.1:p.Ala465Pro
NM_001287802.1:c.901G>C	NP_001274731.1:p.Ala301Pro
NM_003193.4:c.1240G>C	NP_003184.1:p.Ala414Pro
NM_003193.5:c.1240G>C MANE Select	NP_003184.1:p.Ala414Pro
NM_001079515.3:c.1240G>C	NP_001072983.1:p.Ala414Pro
NM_001287801.2:c.1393G>C	NP_001274730.1:p.Ala465Pro
NM_001287802.2:c.901G>C	NP_001274731.1:p.Ala301Pro