Canonical Allele Identifier: CA344946037

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438917-G-A
• MyVariant Identifiers: chr1:g.235602232G>A (hg19) ; chr1:g.235438917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438917G>A , CM000663.2:g.235438917G>A	GRCh38
NC_000001.10:g.235602232G>A , CM000663.1:g.235602232G>A	GRCh37
NC_000001.9:g.233668855G>A	NCBI36
NG_009230.1:g.76505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1076G>A	ENSP00000355560.4:p.Cys359Tyr
ENST00000406207.5:c.1265G>A	ENSP00000384571.1:p.Cys422Tyr
ENST00000472011.6:n.1989G>A
ENST00000543662.4:c.1418G>A	ENSP00000439170.1:p.Cys473Tyr
ENST00000642339.1:c.*962G>A	ENSP00000495425.1:n.*962G>A
ENST00000642431.1:c.1842G>A
ENST00000642463.1:c.*1163G>A	ENSP00000495007.1:n.*1163G>A
ENST00000642503.1:c.*1039G>A	ENSP00000494334.1:n.*1039G>A
ENST00000642610.2:c.1265G>A MANE Select	ENSP00000494796.1:p.Cys422Tyr
ENST00000642764.1:n.2096G>A
ENST00000643125.1:c.*280G>A	ENSP00000494102.1:n.*280G>A
ENST00000643142.1:c.*756G>A	ENSP00000494755.1:n.*756G>A
ENST00000643238.1:c.*285G>A	ENSP00000495916.1:n.*285G>A
ENST00000643410.1:c.*555G>A	ENSP00000495030.1:n.*555G>A
ENST00000643487.1:n.1952G>A
ENST00000643524.1:c.*850G>A	ENSP00000494026.1:n.*850G>A
ENST00000643615.1:c.*1116+1443G>A	ENSP00000496103.1:n.*1116+1443G>A
ENST00000643993.1:n.1401G>A
ENST00000643994.1:c.*1265G>A	ENSP00000496322.1:n.*1265G>A
ENST00000644037.1:c.*1475G>A	ENSP00000496408.1:n.*1475G>A
ENST00000644055.1:c.*1890G>A	ENSP00000496307.1:n.*1890G>A
ENST00000644126.1:n.2937G>A
ENST00000644217.1:c.1265G>A	ENSP00000494646.1:p.Cys422Tyr
ENST00000644265.1:c.634G>A
ENST00000644578.1:c.1079G>A	ENSP00000495953.1:p.Cys360Tyr
ENST00000644604.1:c.1265G>A	ENSP00000495961.1:p.Cys422Tyr
ENST00000644680.1:c.*1786G>A	ENSP00000496173.1:n.*1786G>A
ENST00000644838.1:c.*648G>A	ENSP00000495910.1:n.*648G>A
ENST00000644910.1:c.1872G>A
ENST00000645205.1:c.1265G>A	ENSP00000495823.1:p.Cys422Tyr
ENST00000645351.1:c.1265G>A	ENSP00000494319.1:p.Cys422Tyr
ENST00000645551.1:c.*982G>A	ENSP00000495928.1:n.*982G>A
ENST00000645578.1:c.*1039G>A	ENSP00000496495.1:n.*1039G>A
ENST00000645582.1:c.*1095G>A	ENSP00000494980.1:n.*1095G>A
ENST00000645655.1:c.1265G>A	ENSP00000495202.1:p.Cys422Tyr
ENST00000645836.1:c.*1039G>A	ENSP00000493915.1:n.*1039G>A
ENST00000645899.1:c.1265G>A	ENSP00000496773.1:p.Cys422Tyr
ENST00000645964.1:c.*1131G>A	ENSP00000494208.1:n.*1131G>A
ENST00000646104.1:c.*1733G>A	ENSP00000495475.1:n.*1733G>A
ENST00000646186.1:c.*937G>A	ENSP00000493806.1:n.*937G>A
ENST00000646286.1:c.*1158G>A	ENSP00000494291.1:n.*1158G>A
ENST00000646463.1:c.*1030G>A	ENSP00000494541.1:n.*1030G>A
ENST00000646528.1:c.*1981G>A	ENSP00000496553.1:n.*1981G>A
ENST00000646536.1:c.*555G>A	ENSP00000494801.1:n.*555G>A
ENST00000646624.1:c.1265G>A	ENSP00000494575.1:p.Cys422Tyr
ENST00000646821.1:c.*555G>A	ENSP00000495257.1:n.*555G>A
ENST00000646842.1:n.709G>A
ENST00000646848.1:c.*480G>A	ENSP00000495831.1:n.*480G>A
ENST00000647186.1:c.1265G>A	ENSP00000494775.1:p.Cys422Tyr
ENST00000647233.1:n.2245G>A
ENST00000647322.1:c.856G>A
ENST00000647418.1:c.*1039G>A	ENSP00000493552.1:n.*1039G>A
ENST00000647428.1:c.926G>A	ENSP00000495630.1:p.Cys309Tyr
ENST00000651186.1:c.926G>A	ENSP00000498645.1:p.Cys309Tyr
ENST00000366601.7:c.1265G>A	ENSP00000355560.3:p.Cys422Tyr
ENST00000406207.4:c.1265G>A	ENSP00000384571.1:p.Cys422Tyr
ENST00000472011.5:n.1317G>A
ENST00000543662.3:c.1418G>A	ENSP00000439170.1:p.Cys473Tyr
NM_001079515.2:c.1265G>A	NP_001072983.1:p.Cys422Tyr
NM_001287801.1:c.1418G>A	NP_001274730.1:p.Cys473Tyr
NM_001287802.1:c.926G>A	NP_001274731.1:p.Cys309Tyr
NM_003193.4:c.1265G>A	NP_003184.1:p.Cys422Tyr
NM_003193.5:c.1265G>A MANE Select	NP_003184.1:p.Cys422Tyr
NM_001079515.3:c.1265G>A	NP_001072983.1:p.Cys422Tyr
NM_001287801.2:c.1418G>A	NP_001274730.1:p.Cys473Tyr
NM_001287802.2:c.926G>A	NP_001274731.1:p.Cys309Tyr