Canonical Allele Identifier: CA733130050

Gene: TBCE

Linked Data

• dbSNP Id: rs1486703153
• gnomAD v3: 1-235438698-G-A
• gnomAD v4: 1-235438698-G-A
• MyVariant Identifiers: chr1:g.235602013G>A (hg19) ; chr1:g.235438698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438698G>A , CM000663.2:g.235438698G>A	GRCh38
NC_000001.10:g.235602013G>A , CM000663.1:g.235602013G>A	GRCh37
NC_000001.9:g.233668636G>A	NCBI36
NG_009230.1:g.76286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.928-71G>A	ENSP00000355560.4:n.928-71G>A
ENST00000406207.5:c.1117-71G>A	ENSP00000384571.1:n.1117-71G>A
ENST00000472011.6:n.1841-71G>A
ENST00000543662.4:c.1270-71G>A	ENSP00000439170.1:n.1270-71G>A
ENST00000642339.1:c.*814-71G>A	ENSP00000495425.1:n.*814-71G>A
ENST00000642431.1:c.1694-71G>A
ENST00000642463.1:c.*1015-71G>A	ENSP00000495007.1:n.*1015-71G>A
ENST00000642503.1:c.*891-71G>A	ENSP00000494334.1:n.*891-71G>A
ENST00000642610.2:c.1117-71G>A MANE Select	ENSP00000494796.1:n.1117-71G>A
ENST00000642764.1:n.1948-71G>A
ENST00000643125.1:c.*132-71G>A	ENSP00000494102.1:n.*132-71G>A
ENST00000643142.1:c.*608-71G>A	ENSP00000494755.1:n.*608-71G>A
ENST00000643238.1:c.*137-71G>A	ENSP00000495916.1:n.*137-71G>A
ENST00000643410.1:c.*407-71G>A	ENSP00000495030.1:n.*407-71G>A
ENST00000643487.1:n.1804-71G>A
ENST00000643524.1:c.*702-71G>A	ENSP00000494026.1:n.*702-71G>A
ENST00000643615.1:c.*1116+1224G>A	ENSP00000496103.1:n.*1116+1224G>A
ENST00000643993.1:n.1253-71G>A
ENST00000643994.1:c.*1117-71G>A	ENSP00000496322.1:n.*1117-71G>A
ENST00000644037.1:c.*1327-71G>A	ENSP00000496408.1:n.*1327-71G>A
ENST00000644055.1:c.*1742-71G>A	ENSP00000496307.1:n.*1742-71G>A
ENST00000644126.1:n.2789-71G>A
ENST00000644217.1:c.1117-71G>A	ENSP00000494646.1:n.1117-71G>A
ENST00000644265.1:c.486-71G>A
ENST00000644578.1:c.931-71G>A	ENSP00000495953.1:n.931-71G>A
ENST00000644604.1:c.1117-71G>A	ENSP00000495961.1:n.1117-71G>A
ENST00000644680.1:c.*1638-71G>A	ENSP00000496173.1:n.*1638-71G>A
ENST00000644838.1:c.*500-71G>A	ENSP00000495910.1:n.*500-71G>A
ENST00000644910.1:c.1724-71G>A
ENST00000645205.1:c.1117-71G>A	ENSP00000495823.1:n.1117-71G>A
ENST00000645351.1:c.1117-71G>A	ENSP00000494319.1:n.1117-71G>A
ENST00000645551.1:c.*834-71G>A	ENSP00000495928.1:n.*834-71G>A
ENST00000645578.1:c.*891-71G>A	ENSP00000496495.1:n.*891-71G>A
ENST00000645582.1:c.*947-71G>A	ENSP00000494980.1:n.*947-71G>A
ENST00000645655.1:c.1117-71G>A	ENSP00000495202.1:n.1117-71G>A
ENST00000645662.1:c.*576-71G>A	ENSP00000495964.1:n.*576-71G>A
ENST00000645836.1:c.*891-71G>A	ENSP00000493915.1:n.*891-71G>A
ENST00000645899.1:c.1117-71G>A	ENSP00000496773.1:n.1117-71G>A
ENST00000645964.1:c.*983-71G>A	ENSP00000494208.1:n.*983-71G>A
ENST00000646104.1:c.*1585-71G>A	ENSP00000495475.1:n.*1585-71G>A
ENST00000646186.1:c.*789-71G>A	ENSP00000493806.1:n.*789-71G>A
ENST00000646286.1:c.*1010-71G>A	ENSP00000494291.1:n.*1010-71G>A
ENST00000646463.1:c.*882-71G>A	ENSP00000494541.1:n.*882-71G>A
ENST00000646528.1:c.*1833-71G>A	ENSP00000496553.1:n.*1833-71G>A
ENST00000646536.1:c.*407-71G>A	ENSP00000494801.1:n.*407-71G>A
ENST00000646624.1:c.1117-71G>A	ENSP00000494575.1:n.1117-71G>A
ENST00000646821.1:c.*407-71G>A	ENSP00000495257.1:n.*407-71G>A
ENST00000646842.1:n.561-71G>A
ENST00000646848.1:c.*332-71G>A	ENSP00000495831.1:n.*332-71G>A
ENST00000647186.1:c.1117-71G>A	ENSP00000494775.1:n.1117-71G>A
ENST00000647233.1:n.2097-71G>A
ENST00000647322.1:c.708-71G>A
ENST00000647418.1:c.*891-71G>A	ENSP00000493552.1:n.*891-71G>A
ENST00000647428.1:c.778-71G>A	ENSP00000495630.1:n.778-71G>A
ENST00000651186.1:c.778-71G>A	ENSP00000498645.1:n.778-71G>A
ENST00000366601.7:c.1117-71G>A	ENSP00000355560.3:n.1117-71G>A
ENST00000406207.4:c.1117-71G>A	ENSP00000384571.1:n.1117-71G>A
ENST00000472011.5:n.1169-71G>A
ENST00000543662.3:c.1270-71G>A	ENSP00000439170.1:n.1270-71G>A
NM_001079515.2:c.1117-71G>A	NP_001072983.1:n.1117-71G>A
NM_001287801.1:c.1270-71G>A	NP_001274730.1:n.1270-71G>A
NM_001287802.1:c.778-71G>A	NP_001274731.1:n.778-71G>A
NM_003193.4:c.1117-71G>A	NP_003184.1:n.1117-71G>A
NM_003193.5:c.1117-71G>A MANE Select	NP_003184.1:n.1117-71G>A
NM_001079515.3:c.1117-71G>A	NP_001072983.1:n.1117-71G>A
NM_001287801.2:c.1270-71G>A	NP_001274730.1:n.1270-71G>A
NM_001287802.2:c.778-71G>A	NP_001274731.1:n.778-71G>A