Canonical Allele Identifier: CA39585331
Community Standard Title: NM_003193.5(TBCE):c.661-119G>A
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235434085G>A , CM000663.2:g.235434085G>A GRCh38
NC_000001.10:g.235597400G>A , CM000663.1:g.235597400G>A GRCh37
NC_000001.9:g.233664023G>A NCBI36
NG_009230.1:g.71673G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.661-119G>A MANE Select NP_003184.1:n.661-119G>A
ENST00000642610.2:c.661-119G>A MANE Select ENSP00000494796.1:n.661-119G>A
NM_001079515.2:c.661-119G>A NP_001072983.1:n.661-119G>A
NM_001079515.3:c.661-119G>A NP_001072983.1:n.661-119G>A
NM_001287801.1:c.814-119G>A NP_001274730.1:n.814-119G>A
NM_001287801.2:c.814-119G>A NP_001274730.1:n.814-119G>A
NM_001287802.1:c.322-119G>A NP_001274731.1:n.322-119G>A
NM_001287802.2:c.322-119G>A NP_001274731.1:n.322-119G>A
NM_003193.4:c.661-119G>A NP_003184.1:n.661-119G>A
ENST00000366601.7:c.661-119G>A ENSP00000355560.3:n.661-119G>A
ENST00000366601.8:c.472-119G>A ENSP00000355560.4:n.472-119G>A
ENST00000406207.4:c.661-119G>A ENSP00000384571.1:n.661-119G>A
ENST00000406207.5:c.661-119G>A ENSP00000384571.1:n.661-119G>A
ENST00000472011.5:n.713-119G>A
ENST00000472011.6:n.747-119G>A
ENST00000482230.5:n.876-119G>A
ENST00000482230.6:n.322-119G>A
ENST00000543662.3:c.814-119G>A ENSP00000439170.1:n.814-119G>A
ENST00000543662.4:c.814-119G>A ENSP00000439170.1:n.814-119G>A
ENST00000642339.1:c.*435-1660G>A ENSP00000495425.1:n.*435-1660G>A
ENST00000642372.1:c.368-119G>A
ENST00000642431.1:c.1238-119G>A
ENST00000642463.1:c.*559-119G>A ENSP00000495007.1:n.*559-119G>A
ENST00000642503.1:c.*435-119G>A ENSP00000494334.1:n.*435-119G>A
ENST00000642764.1:n.735G>A
ENST00000643125.1:c.661-119G>A ENSP00000494102.1:n.661-119G>A
ENST00000643142.1:c.*152-119G>A ENSP00000494755.1:n.*152-119G>A
ENST00000643238.1:c.561-119G>A ENSP00000495916.1:n.561-119G>A
ENST00000643410.1:c.887-119G>A ENSP00000495030.1:n.887-119G>A
ENST00000643418.1:c.*435-119G>A ENSP00000495711.1:n.*435-119G>A
ENST00000643487.1:n.1348-119G>A
ENST00000643524.1:c.*246-119G>A ENSP00000494026.1:n.*246-119G>A
ENST00000643615.1:c.*661-119G>A ENSP00000496103.1:n.*661-119G>A
ENST00000643993.1:n.704-119G>A
ENST00000643994.1:c.*661-119G>A ENSP00000496322.1:n.*661-119G>A
ENST00000644037.1:c.*233-119G>A ENSP00000496408.1:n.*233-119G>A
ENST00000644055.1:c.*1286-119G>A ENSP00000496307.1:n.*1286-119G>A
ENST00000644126.1:n.1695-119G>A
ENST00000644217.1:c.661-119G>A ENSP00000494646.1:n.661-119G>A
ENST00000644265.1:c.256-119G>A
ENST00000644578.1:c.475-119G>A ENSP00000495953.1:n.475-119G>A
ENST00000644604.1:c.661-119G>A ENSP00000495961.1:n.661-119G>A
ENST00000644680.1:c.*1182-119G>A ENSP00000496173.1:n.*1182-119G>A
ENST00000644838.1:c.887-119G>A ENSP00000495910.1:n.887-119G>A
ENST00000644910.1:c.630-119G>A
ENST00000645205.1:c.661-119G>A ENSP00000495823.1:n.661-119G>A
ENST00000645351.1:c.661-119G>A ENSP00000494319.1:n.661-119G>A
ENST00000645372.1:c.301-119G>A ENSP00000496612.1:n.301-119G>A
ENST00000645551.1:c.*378-119G>A ENSP00000495928.1:n.*378-119G>A
ENST00000645578.1:c.*435-119G>A ENSP00000496495.1:n.*435-119G>A
ENST00000645582.1:c.*491-119G>A ENSP00000494980.1:n.*491-119G>A
ENST00000645655.1:c.661-119G>A ENSP00000495202.1:n.661-119G>A
ENST00000645662.1:c.*346-119G>A ENSP00000495964.1:n.*346-119G>A
ENST00000645836.1:c.*435-119G>A ENSP00000493915.1:n.*435-119G>A
ENST00000645899.1:c.661-119G>A ENSP00000496773.1:n.661-119G>A
ENST00000645964.1:c.372-119G>A ENSP00000494208.1:n.372-119G>A
ENST00000646104.1:c.*491-119G>A ENSP00000495475.1:n.*491-119G>A
ENST00000646186.1:c.*333-119G>A ENSP00000493806.1:n.*333-119G>A
ENST00000646281.1:c.661-119G>A ENSP00000495225.1:n.661-119G>A
ENST00000646286.1:c.*554-119G>A ENSP00000494291.1:n.*554-119G>A
ENST00000646463.1:c.*333-119G>A ENSP00000494541.1:n.*333-119G>A
ENST00000646528.1:c.*1377-119G>A ENSP00000496553.1:n.*1377-119G>A
ENST00000646536.1:c.887-119G>A ENSP00000494801.1:n.887-119G>A
ENST00000646624.1:c.661-119G>A ENSP00000494575.1:n.661-119G>A
ENST00000646821.1:c.698-119G>A ENSP00000495257.1:n.698-119G>A
ENST00000646842.1:n.331-119G>A
ENST00000646848.1:c.661-1660G>A ENSP00000495831.1:n.661-1660G>A
ENST00000647186.1:c.661-119G>A ENSP00000494775.1:n.661-119G>A
ENST00000647233.1:n.1003-119G>A
ENST00000647322.1:c.478-119G>A
ENST00000647332.1:c.*146-119G>A ENSP00000495024.1:n.*146-119G>A
ENST00000647418.1:c.*435-119G>A ENSP00000493552.1:n.*435-119G>A
ENST00000647428.1:c.322-119G>A ENSP00000495630.1:n.322-119G>A
ENST00000651186.1:c.322-119G>A ENSP00000498645.1:n.322-119G>A