Canonical Allele Identifier: CA1464039

Gene: TBCE

Linked Data

• ClinVar Variation Id: 296295
• ClinVar RCV Id: RCV000375485 ; RCV002059460
• dbSNP Id: rs143717755
• ExAC: 1:235582890 C / T
• gnomAD v2: 1-235582890-C-T
• gnomAD v3: 1-235419575-C-T
• gnomAD v4: 1-235419575-C-T
• MyVariant Identifiers: chr1:g.235582890C>T (hg19) ; chr1:g.235419575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235419575C>T , CM000663.2:g.235419575C>T	GRCh38
NC_000001.10:g.235582890C>T , CM000663.1:g.235582890C>T	GRCh37
NC_000001.9:g.233649513C>T	NCBI36
NG_009230.1:g.57163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.371+4957C>T	ENSP00000355560.4:n.371+4957C>T
ENST00000406207.5:c.460+14C>T	ENSP00000384571.1:n.460+14C>T
ENST00000472011.6:n.546+14C>T
ENST00000482230.6:n.221+14C>T
ENST00000543662.4:c.460+14C>T	ENSP00000439170.1:n.460+14C>T
ENST00000642339.1:c.*234+14C>T	ENSP00000495425.1:n.*234+14C>T
ENST00000642372.1:c.367+4957C>T
ENST00000642431.1:c.1037+14C>T
ENST00000642463.1:c.*132+14C>T	ENSP00000495007.1:n.*132+14C>T
ENST00000642503.1:c.*234+14C>T	ENSP00000494334.1:n.*234+14C>T
ENST00000642610.2:c.460+14C>T MANE Select	ENSP00000494796.1:n.460+14C>T
ENST00000643125.1:c.460+14C>T	ENSP00000494102.1:n.460+14C>T
ENST00000643142.1:c.371+4957C>T	ENSP00000494755.1:n.371+4957C>T
ENST00000643238.1:c.460+14C>T	ENSP00000495916.1:n.460+14C>T
ENST00000643410.1:c.460+14C>T	ENSP00000495030.1:n.460+14C>T
ENST00000643418.1:c.*234+14C>T	ENSP00000495711.1:n.*234+14C>T
ENST00000643524.1:c.*145+4957C>T	ENSP00000494026.1:n.*145+4957C>T
ENST00000643615.1:c.*234+14C>T	ENSP00000496103.1:n.*234+14C>T
ENST00000643993.1:n.503+14C>T
ENST00000643994.1:c.*234+14C>T	ENSP00000496322.1:n.*234+14C>T
ENST00000644037.1:c.*132+14C>T	ENSP00000496408.1:n.*132+14C>T
ENST00000644055.1:c.*859+14C>T	ENSP00000496307.1:n.*859+14C>T
ENST00000644217.1:c.460+14C>T	ENSP00000494646.1:n.460+14C>T
ENST00000644265.1:c.255+4957C>T
ENST00000644578.1:c.274+14C>T	ENSP00000495953.1:n.274+14C>T
ENST00000644604.1:c.460+14C>T	ENSP00000495961.1:n.460+14C>T
ENST00000644680.1:c.*981+14C>T	ENSP00000496173.1:n.*981+14C>T
ENST00000644838.1:c.460+14C>T	ENSP00000495910.1:n.460+14C>T
ENST00000644910.1:c.203+14C>T
ENST00000645069.1:c.*234+14C>T	ENSP00000496644.1:n.*234+14C>T
ENST00000645205.1:c.460+14C>T	ENSP00000495823.1:n.460+14C>T
ENST00000645351.1:c.460+14C>T	ENSP00000494319.1:n.460+14C>T
ENST00000645372.1:c.101-7565C>T	ENSP00000496612.1:n.101-7565C>T
ENST00000645551.1:c.371+4957C>T	ENSP00000495928.1:n.371+4957C>T
ENST00000645578.1:c.*234+14C>T	ENSP00000496495.1:n.*234+14C>T
ENST00000645582.1:c.*290+14C>T	ENSP00000494980.1:n.*290+14C>T
ENST00000645655.1:c.460+14C>T	ENSP00000495202.1:n.460+14C>T
ENST00000645662.1:c.*145+4957C>T	ENSP00000495964.1:n.*145+4957C>T
ENST00000645836.1:c.*234+14C>T	ENSP00000493915.1:n.*234+14C>T
ENST00000645899.1:c.460+14C>T	ENSP00000496773.1:n.460+14C>T
ENST00000645964.1:c.371+4957C>T	ENSP00000494208.1:n.371+4957C>T
ENST00000646104.1:c.*290+14C>T	ENSP00000495475.1:n.*290+14C>T
ENST00000646186.1:c.*132+14C>T	ENSP00000493806.1:n.*132+14C>T
ENST00000646281.1:c.460+14C>T	ENSP00000495225.1:n.460+14C>T
ENST00000646286.1:c.*353+14C>T	ENSP00000494291.1:n.*353+14C>T
ENST00000646463.1:c.*132+14C>T	ENSP00000494541.1:n.*132+14C>T
ENST00000646528.1:c.*950+14C>T	ENSP00000496553.1:n.*950+14C>T
ENST00000646536.1:c.460+14C>T	ENSP00000494801.1:n.460+14C>T
ENST00000646624.1:c.460+14C>T	ENSP00000494575.1:n.460+14C>T
ENST00000646821.1:c.371+4957C>T	ENSP00000495257.1:n.371+4957C>T
ENST00000646842.1:n.130+14C>T
ENST00000646848.1:c.460+14C>T	ENSP00000495831.1:n.460+14C>T
ENST00000646929.1:c.362+60C>T
ENST00000647186.1:c.460+14C>T	ENSP00000494775.1:n.460+14C>T
ENST00000647233.1:n.576+14C>T
ENST00000647322.1:c.51+14C>T
ENST00000647332.1:c.*145+4957C>T	ENSP00000495024.1:n.*145+4957C>T
ENST00000647338.1:n.483+14C>T
ENST00000647407.1:c.226+14C>T	ENSP00000495319.1:n.226+14C>T
ENST00000647418.1:c.*234+14C>T	ENSP00000493552.1:n.*234+14C>T
ENST00000647428.1:c.121+14C>T	ENSP00000495630.1:n.121+14C>T
ENST00000647489.1:c.*234+14C>T	ENSP00000494232.1:n.*234+14C>T
ENST00000651186.1:c.121+14C>T	ENSP00000498645.1:n.121+14C>T
ENST00000366601.7:c.460+14C>T	ENSP00000355560.3:n.460+14C>T
ENST00000406207.4:c.460+14C>T	ENSP00000384571.1:n.460+14C>T
ENST00000461651.1:n.246+14C>T
ENST00000472011.5:n.512+14C>T
ENST00000482230.5:n.675+14C>T
ENST00000543662.3:c.460+14C>T	ENSP00000439170.1:n.460+14C>T
NM_001079515.2:c.460+14C>T	NP_001072983.1:n.460+14C>T
NM_001287801.1:c.460+14C>T	NP_001274730.1:n.460+14C>T
NM_001287802.1:c.121+14C>T	NP_001274731.1:n.121+14C>T
NM_003193.4:c.460+14C>T	NP_003184.1:n.460+14C>T
NM_003193.5:c.460+14C>T MANE Select	NP_003184.1:n.460+14C>T
NM_001079515.3:c.460+14C>T	NP_001072983.1:n.460+14C>T
NM_001287801.2:c.460+14C>T	NP_001274730.1:n.460+14C>T
NM_001287802.2:c.121+14C>T	NP_001274731.1:n.121+14C>T