Canonical Allele Identifier: CA1464390

Gene: TBCE

Linked Data

• ClinVar Variation Id: 1614095
• ClinVar RCV Id: RCV002173711
• dbSNP Id: rs769172119
• ExAC: 1:235602244 G / C
• gnomAD v2: 1-235602244-G-C
• gnomAD v3: 1-235438929-G-C
• gnomAD v4: 1-235438929-G-C
• MyVariant Identifiers: chr1:g.235602244G>C (hg19) ; chr1:g.235438929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438929G>C , CM000663.2:g.235438929G>C	GRCh38
NC_000001.10:g.235602244G>C , CM000663.1:g.235602244G>C	GRCh37
NC_000001.9:g.233668867G>C	NCBI36
NG_009230.1:g.76517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1081+7G>C	ENSP00000355560.4:n.1081+7G>C
ENST00000406207.5:c.1270+7G>C	ENSP00000384571.1:n.1270+7G>C
ENST00000472011.6:n.1994+7G>C
ENST00000543662.4:c.1423+7G>C	ENSP00000439170.1:n.1423+7G>C
ENST00000642339.1:c.*967+7G>C	ENSP00000495425.1:n.*967+7G>C
ENST00000642431.1:c.1847+7G>C
ENST00000642463.1:c.*1168+7G>C	ENSP00000495007.1:n.*1168+7G>C
ENST00000642503.1:c.*1044+7G>C	ENSP00000494334.1:n.*1044+7G>C
ENST00000642610.2:c.1270+7G>C MANE Select	ENSP00000494796.1:n.1270+7G>C
ENST00000642764.1:n.2101+7G>C
ENST00000643125.1:c.*285+7G>C	ENSP00000494102.1:n.*285+7G>C
ENST00000643142.1:c.*761+7G>C	ENSP00000494755.1:n.*761+7G>C
ENST00000643238.1:c.*290+7G>C	ENSP00000495916.1:n.*290+7G>C
ENST00000643410.1:c.*560+7G>C	ENSP00000495030.1:n.*560+7G>C
ENST00000643487.1:n.1957+7G>C
ENST00000643524.1:c.*855+7G>C	ENSP00000494026.1:n.*855+7G>C
ENST00000643615.1:c.*1116+1455G>C	ENSP00000496103.1:n.*1116+1455G>C
ENST00000643993.1:n.1406+7G>C
ENST00000643994.1:c.*1270+7G>C	ENSP00000496322.1:n.*1270+7G>C
ENST00000644037.1:c.*1480+7G>C	ENSP00000496408.1:n.*1480+7G>C
ENST00000644055.1:c.*1895+7G>C	ENSP00000496307.1:n.*1895+7G>C
ENST00000644126.1:n.2942+7G>C
ENST00000644217.1:c.1277G>C	ENSP00000494646.1:p.Cys426Ser
ENST00000644265.1:c.639+7G>C
ENST00000644578.1:c.1091G>C	ENSP00000495953.1:p.Cys364Ser
ENST00000644604.1:c.1270+7G>C	ENSP00000495961.1:n.1270+7G>C
ENST00000644680.1:c.*1791+7G>C	ENSP00000496173.1:n.*1791+7G>C
ENST00000644838.1:c.*653+7G>C	ENSP00000495910.1:n.*653+7G>C
ENST00000644910.1:c.1877+7G>C
ENST00000645205.1:c.1270+7G>C	ENSP00000495823.1:n.1270+7G>C
ENST00000645351.1:c.1270+7G>C	ENSP00000494319.1:n.1270+7G>C
ENST00000645551.1:c.*987+7G>C	ENSP00000495928.1:n.*987+7G>C
ENST00000645578.1:c.*1044+7G>C	ENSP00000496495.1:n.*1044+7G>C
ENST00000645582.1:c.*1100+7G>C	ENSP00000494980.1:n.*1100+7G>C
ENST00000645655.1:c.1270+7G>C	ENSP00000495202.1:n.1270+7G>C
ENST00000645836.1:c.*1044+7G>C	ENSP00000493915.1:n.*1044+7G>C
ENST00000645899.1:c.1270+7G>C	ENSP00000496773.1:n.1270+7G>C
ENST00000645964.1:c.*1136+7G>C	ENSP00000494208.1:n.*1136+7G>C
ENST00000646104.1:c.*1738+7G>C	ENSP00000495475.1:n.*1738+7G>C
ENST00000646186.1:c.*942+7G>C	ENSP00000493806.1:n.*942+7G>C
ENST00000646286.1:c.*1163+7G>C	ENSP00000494291.1:n.*1163+7G>C
ENST00000646463.1:c.*1035+7G>C	ENSP00000494541.1:n.*1035+7G>C
ENST00000646528.1:c.*1986+7G>C	ENSP00000496553.1:n.*1986+7G>C
ENST00000646536.1:c.*564+3G>C	ENSP00000494801.1:n.*564+3G>C
ENST00000646624.1:c.1270+7G>C	ENSP00000494575.1:n.1270+7G>C
ENST00000646821.1:c.*560+7G>C	ENSP00000495257.1:n.*560+7G>C
ENST00000646842.1:n.714+7G>C
ENST00000646848.1:c.*485+7G>C	ENSP00000495831.1:n.*485+7G>C
ENST00000647186.1:c.1270+7G>C	ENSP00000494775.1:n.1270+7G>C
ENST00000647233.1:n.2250+7G>C
ENST00000647322.1:c.861+7G>C
ENST00000647418.1:c.*1044+7G>C	ENSP00000493552.1:n.*1044+7G>C
ENST00000647428.1:c.931+7G>C	ENSP00000495630.1:n.931+7G>C
ENST00000651186.1:c.931+7G>C	ENSP00000498645.1:n.931+7G>C
ENST00000366601.7:c.1270+7G>C	ENSP00000355560.3:n.1270+7G>C
ENST00000406207.4:c.1270+7G>C	ENSP00000384571.1:n.1270+7G>C
ENST00000472011.5:n.1322+7G>C
ENST00000543662.3:c.1423+7G>C	ENSP00000439170.1:n.1423+7G>C
NM_001079515.2:c.1270+7G>C	NP_001072983.1:n.1270+7G>C
NM_001287801.1:c.1423+7G>C	NP_001274730.1:n.1423+7G>C
NM_001287802.1:c.931+7G>C	NP_001274731.1:n.931+7G>C
NM_003193.4:c.1270+7G>C	NP_003184.1:n.1270+7G>C
NM_003193.5:c.1270+7G>C MANE Select	NP_003184.1:n.1270+7G>C
NM_001079515.3:c.1270+7G>C	NP_001072983.1:n.1270+7G>C
NM_001287801.2:c.1423+7G>C	NP_001274730.1:n.1423+7G>C
NM_001287802.2:c.931+7G>C	NP_001274731.1:n.931+7G>C