Canonical Allele Identifier: CA10826951

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235419145T>C , CM000663.2:g.235419145T>C	GRCh38
NC_000001.10:g.235582460T>C , CM000663.1:g.235582460T>C	GRCh37
NC_000001.9:g.233649083T>C	NCBI36
NG_009230.1:g.56733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.371+4527T>C	ENSP00000355560.4:n.371+4527T>C
ENST00000406207.5:c.372-328T>C	ENSP00000384571.1:n.372-328T>C
ENST00000472011.6:n.458-328T>C
ENST00000482230.6:n.133-328T>C
ENST00000543662.4:c.372-328T>C	ENSP00000439170.1:n.372-328T>C
ENST00000642339.1:c.*146-328T>C	ENSP00000495425.1:n.*146-328T>C
ENST00000642372.1:c.367+4527T>C
ENST00000642431.1:c.949-328T>C
ENST00000642463.1:c.372-272T>C	ENSP00000495007.1:n.372-272T>C
ENST00000642503.1:c.*146-328T>C	ENSP00000494334.1:n.*146-328T>C
ENST00000642610.2:c.372-328T>C MANE Select	ENSP00000494796.1:n.372-328T>C
ENST00000643125.1:c.372-328T>C	ENSP00000494102.1:n.372-328T>C
ENST00000643142.1:c.371+4527T>C	ENSP00000494755.1:n.371+4527T>C
ENST00000643238.1:c.372-328T>C	ENSP00000495916.1:n.372-328T>C
ENST00000643410.1:c.372-328T>C	ENSP00000495030.1:n.372-328T>C
ENST00000643418.1:c.*146-328T>C	ENSP00000495711.1:n.*146-328T>C
ENST00000643524.1:c.*145+4527T>C	ENSP00000494026.1:n.*145+4527T>C
ENST00000643615.1:c.*146-328T>C	ENSP00000496103.1:n.*146-328T>C
ENST00000643993.1:n.415-328T>C
ENST00000643994.1:c.*146-328T>C	ENSP00000496322.1:n.*146-328T>C
ENST00000644037.1:c.372-272T>C	ENSP00000496408.1:n.372-272T>C
ENST00000644055.1:c.*771-328T>C	ENSP00000496307.1:n.*771-328T>C
ENST00000644217.1:c.372-328T>C	ENSP00000494646.1:n.372-328T>C
ENST00000644265.1:c.255+4527T>C
ENST00000644578.1:c.186-328T>C	ENSP00000495953.1:n.186-328T>C
ENST00000644604.1:c.372-328T>C	ENSP00000495961.1:n.372-328T>C
ENST00000644680.1:c.*893-328T>C	ENSP00000496173.1:n.*893-328T>C
ENST00000644838.1:c.372-328T>C	ENSP00000495910.1:n.372-328T>C
ENST00000644910.1:c.59-272T>C
ENST00000645069.1:c.*146-328T>C	ENSP00000496644.1:n.*146-328T>C
ENST00000645205.1:c.372-328T>C	ENSP00000495823.1:n.372-328T>C
ENST00000645351.1:c.372-328T>C	ENSP00000494319.1:n.372-328T>C
ENST00000645372.1:c.101-7995T>C	ENSP00000496612.1:n.101-7995T>C
ENST00000645551.1:c.371+4527T>C	ENSP00000495928.1:n.371+4527T>C
ENST00000645578.1:c.*146-328T>C	ENSP00000496495.1:n.*146-328T>C
ENST00000645582.1:c.*146-272T>C	ENSP00000494980.1:n.*146-272T>C
ENST00000645655.1:c.372-328T>C	ENSP00000495202.1:n.372-328T>C
ENST00000645662.1:c.*145+4527T>C	ENSP00000495964.1:n.*145+4527T>C
ENST00000645836.1:c.*146-328T>C	ENSP00000493915.1:n.*146-328T>C
ENST00000645899.1:c.372-328T>C	ENSP00000496773.1:n.372-328T>C
ENST00000645964.1:c.371+4527T>C	ENSP00000494208.1:n.371+4527T>C
ENST00000646104.1:c.*146-272T>C	ENSP00000495475.1:n.*146-272T>C
ENST00000646186.1:c.372-272T>C	ENSP00000493806.1:n.372-272T>C
ENST00000646281.1:c.372-328T>C	ENSP00000495225.1:n.372-328T>C
ENST00000646286.1:c.*265-328T>C	ENSP00000494291.1:n.*265-328T>C
ENST00000646463.1:c.372-272T>C	ENSP00000494541.1:n.372-272T>C
ENST00000646528.1:c.*806-272T>C	ENSP00000496553.1:n.*806-272T>C
ENST00000646536.1:c.372-328T>C	ENSP00000494801.1:n.372-328T>C
ENST00000646624.1:c.372-328T>C	ENSP00000494575.1:n.372-328T>C
ENST00000646821.1:c.371+4527T>C	ENSP00000495257.1:n.371+4527T>C
ENST00000646848.1:c.372-328T>C	ENSP00000495831.1:n.372-328T>C
ENST00000646929.1:c.264-272T>C
ENST00000647186.1:c.372-328T>C	ENSP00000494775.1:n.372-328T>C
ENST00000647233.1:n.488-328T>C
ENST00000647332.1:c.*145+4527T>C	ENSP00000495024.1:n.*145+4527T>C
ENST00000647338.1:n.67T>C
ENST00000647407.1:c.138-328T>C	ENSP00000495319.1:n.138-328T>C
ENST00000647418.1:c.*146-328T>C	ENSP00000493552.1:n.*146-328T>C
ENST00000647428.1:c.-24-272T>C	ENSP00000495630.1:n.-24-272T>C
ENST00000647489.1:c.*146-328T>C	ENSP00000494232.1:n.*146-328T>C
ENST00000651186.1:c.-24-272T>C	ENSP00000498645.1:n.-24-272T>C
ENST00000366601.7:c.372-328T>C	ENSP00000355560.3:n.372-328T>C
ENST00000406207.4:c.372-328T>C	ENSP00000384571.1:n.372-328T>C
ENST00000461651.1:n.102-272T>C
ENST00000472011.5:n.368-272T>C
ENST00000482230.5:n.531-272T>C
ENST00000543662.3:c.372-328T>C	ENSP00000439170.1:n.372-328T>C
NM_001079515.2:c.372-328T>C	NP_001072983.1:n.372-328T>C
NM_001287801.1:c.372-328T>C	NP_001274730.1:n.372-328T>C
NM_001287802.1:c.-24-272T>C	NP_001274731.1:n.-24-272T>C
NM_003193.4:c.372-328T>C	NP_003184.1:n.372-328T>C
NM_003193.5:c.372-328T>C MANE Select	NP_003184.1:n.372-328T>C
NM_001079515.3:c.372-328T>C	NP_001072983.1:n.372-328T>C
NM_001287801.2:c.372-328T>C	NP_001274730.1:n.372-328T>C
NM_001287802.2:c.-24-272T>C	NP_001274731.1:n.-24-272T>C