Canonical Allele Identifier: CA2486498984
Community Standard Title: NM_003193.5(TBCE):c.963+236T=
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235436844T= , CM000663.2:g.235436844T= GRCh38
NC_000001.10:g.235600159T= , CM000663.1:g.235600159T= GRCh37
NC_000001.9:g.233666782T= NCBI36
NG_009230.1:g.74432T=

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.963+236T= MANE Select NP_003184.1:n.963+236T=
ENST00000642610.2:c.963+236T= MANE Select ENSP00000494796.1:n.963+236T=
NM_001079515.2:c.963+236T= NP_001072983.1:n.963+236T=
NM_001079515.3:c.963+236T= NP_001072983.1:n.963+236T=
NM_001287801.1:c.1116+236T= NP_001274730.1:n.1116+236T=
NM_001287801.2:c.1116+236T= NP_001274730.1:n.1116+236T=
NM_001287802.1:c.624+236T= NP_001274731.1:n.624+236T=
NM_001287802.2:c.624+236T= NP_001274731.1:n.624+236T=
NM_003193.4:c.963+236T= NP_003184.1:n.963+236T=
ENST00000366601.7:c.963+236T= ENSP00000355560.3:n.963+236T=
ENST00000366601.8:c.774+236T= ENSP00000355560.4:n.774+236T=
ENST00000406207.4:c.963+236T= ENSP00000384571.1:n.963+236T=
ENST00000406207.5:c.963+236T= ENSP00000384571.1:n.963+236T=
ENST00000472011.5:n.1015+236T=
ENST00000472011.6:n.1687+236T=
ENST00000543662.3:c.1116+236T= ENSP00000439170.1:n.1116+236T=
ENST00000543662.4:c.1116+236T= ENSP00000439170.1:n.1116+236T=
ENST00000642339.1:c.*660+236T= ENSP00000495425.1:n.*660+236T=
ENST00000642431.1:c.1540+236T=
ENST00000642463.1:c.*861+236T= ENSP00000495007.1:n.*861+236T=
ENST00000642503.1:c.*737+236T= ENSP00000494334.1:n.*737+236T=
ENST00000642764.1:n.1794+236T=
ENST00000643125.1:c.738-478T= ENSP00000494102.1:n.738-478T=
ENST00000643142.1:c.*454+236T= ENSP00000494755.1:n.*454+236T=
ENST00000643238.1:c.638-478T= ENSP00000495916.1:n.638-478T=
ENST00000643410.1:c.*253+236T= ENSP00000495030.1:n.*253+236T=
ENST00000643487.1:n.1650+236T=
ENST00000643524.1:c.*548+236T= ENSP00000494026.1:n.*548+236T=
ENST00000643615.1:c.*963+236T= ENSP00000496103.1:n.*963+236T=
ENST00000643993.1:n.1099+236T=
ENST00000643994.1:c.*963+236T= ENSP00000496322.1:n.*963+236T=
ENST00000644037.1:c.*1173+236T= ENSP00000496408.1:n.*1173+236T=
ENST00000644055.1:c.*1588+236T= ENSP00000496307.1:n.*1588+236T=
ENST00000644126.1:n.2635+236T=
ENST00000644217.1:c.963+236T= ENSP00000494646.1:n.963+236T=
ENST00000644265.1:c.333-478T=
ENST00000644578.1:c.777+236T= ENSP00000495953.1:n.777+236T=
ENST00000644604.1:c.963+236T= ENSP00000495961.1:n.963+236T=
ENST00000644680.1:c.*1484+236T= ENSP00000496173.1:n.*1484+236T=
ENST00000644838.1:c.*346+236T= ENSP00000495910.1:n.*346+236T=
ENST00000644910.1:c.1570+236T=
ENST00000645205.1:c.963+236T= ENSP00000495823.1:n.963+236T=
ENST00000645351.1:c.963+236T= ENSP00000494319.1:n.963+236T=
ENST00000645551.1:c.*680+236T= ENSP00000495928.1:n.*680+236T=
ENST00000645578.1:c.*737+236T= ENSP00000496495.1:n.*737+236T=
ENST00000645582.1:c.*793+236T= ENSP00000494980.1:n.*793+236T=
ENST00000645655.1:c.963+236T= ENSP00000495202.1:n.963+236T=
ENST00000645662.1:c.*423-478T= ENSP00000495964.1:n.*423-478T=
ENST00000645836.1:c.*737+236T= ENSP00000493915.1:n.*737+236T=
ENST00000645899.1:c.963+236T= ENSP00000496773.1:n.963+236T=
ENST00000645964.1:c.*829+236T= ENSP00000494208.1:n.*829+236T=
ENST00000646104.1:c.*1431+236T= ENSP00000495475.1:n.*1431+236T=
ENST00000646186.1:c.*635+236T= ENSP00000493806.1:n.*635+236T=
ENST00000646281.1:c.963+236T= ENSP00000495225.1:n.963+236T=
ENST00000646286.1:c.*856+236T= ENSP00000494291.1:n.*856+236T=
ENST00000646463.1:c.*728+236T= ENSP00000494541.1:n.*728+236T=
ENST00000646528.1:c.*1679+236T= ENSP00000496553.1:n.*1679+236T=
ENST00000646536.1:c.*253+236T= ENSP00000494801.1:n.*253+236T=
ENST00000646624.1:c.963+236T= ENSP00000494575.1:n.963+236T=
ENST00000646821.1:c.*253+236T= ENSP00000495257.1:n.*253+236T=
ENST00000646842.1:n.408-478T=
ENST00000646848.1:c.*178+236T= ENSP00000495831.1:n.*178+236T=
ENST00000647186.1:c.963+236T= ENSP00000494775.1:n.963+236T=
ENST00000647233.1:n.1943+236T=
ENST00000647322.1:c.555-478T=
ENST00000647332.1:c.*448+236T= ENSP00000495024.1:n.*448+236T=
ENST00000647418.1:c.*737+236T= ENSP00000493552.1:n.*737+236T=
ENST00000647428.1:c.624+236T= ENSP00000495630.1:n.624+236T=
ENST00000651186.1:c.624+236T= ENSP00000498645.1:n.624+236T=