Canonical Allele Identifier: CA344944712

Gene: TBCE

Linked Data

• ClinVar Variation Id: 2252200
• ClinVar RCV Id: RCV002777077
• dbSNP Id: rs1393991210
• gnomAD v4: 1-235438791-G-C
• MyVariant Identifiers: chr1:g.235602106G>C (hg19) ; chr1:g.235438791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438791G>C , CM000663.2:g.235438791G>C	GRCh38
NC_000001.10:g.235602106G>C , CM000663.1:g.235602106G>C	GRCh37
NC_000001.9:g.233668729G>C	NCBI36
NG_009230.1:g.76379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.950G>C	ENSP00000355560.4:p.Arg317Thr
ENST00000406207.5:c.1139G>C	ENSP00000384571.1:p.Arg380Thr
ENST00000472011.6:n.1863G>C
ENST00000543662.4:c.1292G>C	ENSP00000439170.1:p.Arg431Thr
ENST00000642339.1:c.*836G>C	ENSP00000495425.1:n.*836G>C
ENST00000642431.1:c.1716G>C
ENST00000642463.1:c.*1037G>C	ENSP00000495007.1:n.*1037G>C
ENST00000642503.1:c.*913G>C	ENSP00000494334.1:n.*913G>C
ENST00000642610.2:c.1139G>C MANE Select	ENSP00000494796.1:p.Arg380Thr
ENST00000642764.1:n.1970G>C
ENST00000643125.1:c.*154G>C	ENSP00000494102.1:n.*154G>C
ENST00000643142.1:c.*630G>C	ENSP00000494755.1:n.*630G>C
ENST00000643238.1:c.*159G>C	ENSP00000495916.1:n.*159G>C
ENST00000643410.1:c.*429G>C	ENSP00000495030.1:n.*429G>C
ENST00000643487.1:n.1826G>C
ENST00000643524.1:c.*724G>C	ENSP00000494026.1:n.*724G>C
ENST00000643615.1:c.*1116+1317G>C	ENSP00000496103.1:n.*1116+1317G>C
ENST00000643993.1:n.1275G>C
ENST00000643994.1:c.*1139G>C	ENSP00000496322.1:n.*1139G>C
ENST00000644037.1:c.*1349G>C	ENSP00000496408.1:n.*1349G>C
ENST00000644055.1:c.*1764G>C	ENSP00000496307.1:n.*1764G>C
ENST00000644126.1:n.2811G>C
ENST00000644217.1:c.1139G>C	ENSP00000494646.1:p.Arg380Thr
ENST00000644265.1:c.508G>C
ENST00000644578.1:c.953G>C	ENSP00000495953.1:p.Arg318Thr
ENST00000644604.1:c.1139G>C	ENSP00000495961.1:p.Arg380Thr
ENST00000644680.1:c.*1660G>C	ENSP00000496173.1:n.*1660G>C
ENST00000644838.1:c.*522G>C	ENSP00000495910.1:n.*522G>C
ENST00000644910.1:c.1746G>C
ENST00000645205.1:c.1139G>C	ENSP00000495823.1:p.Arg380Thr
ENST00000645351.1:c.1139G>C	ENSP00000494319.1:p.Arg380Thr
ENST00000645551.1:c.*856G>C	ENSP00000495928.1:n.*856G>C
ENST00000645578.1:c.*913G>C	ENSP00000496495.1:n.*913G>C
ENST00000645582.1:c.*969G>C	ENSP00000494980.1:n.*969G>C
ENST00000645655.1:c.1139G>C	ENSP00000495202.1:p.Arg380Thr
ENST00000645662.1:c.*598G>C	ENSP00000495964.1:n.*598G>C
ENST00000645836.1:c.*913G>C	ENSP00000493915.1:n.*913G>C
ENST00000645899.1:c.1139G>C	ENSP00000496773.1:p.Arg380Thr
ENST00000645964.1:c.*1005G>C	ENSP00000494208.1:n.*1005G>C
ENST00000646104.1:c.*1607G>C	ENSP00000495475.1:n.*1607G>C
ENST00000646186.1:c.*811G>C	ENSP00000493806.1:n.*811G>C
ENST00000646286.1:c.*1032G>C	ENSP00000494291.1:n.*1032G>C
ENST00000646463.1:c.*904G>C	ENSP00000494541.1:n.*904G>C
ENST00000646528.1:c.*1855G>C	ENSP00000496553.1:n.*1855G>C
ENST00000646536.1:c.*429G>C	ENSP00000494801.1:n.*429G>C
ENST00000646624.1:c.1139G>C	ENSP00000494575.1:p.Arg380Thr
ENST00000646821.1:c.*429G>C	ENSP00000495257.1:n.*429G>C
ENST00000646842.1:n.583G>C
ENST00000646848.1:c.*354G>C	ENSP00000495831.1:n.*354G>C
ENST00000647186.1:c.1139G>C	ENSP00000494775.1:p.Arg380Thr
ENST00000647233.1:n.2119G>C
ENST00000647322.1:c.730G>C
ENST00000647418.1:c.*913G>C	ENSP00000493552.1:n.*913G>C
ENST00000647428.1:c.800G>C	ENSP00000495630.1:p.Arg267Thr
ENST00000651186.1:c.800G>C	ENSP00000498645.1:p.Arg267Thr
ENST00000366601.7:c.1139G>C	ENSP00000355560.3:p.Arg380Thr
ENST00000406207.4:c.1139G>C	ENSP00000384571.1:p.Arg380Thr
ENST00000472011.5:n.1191G>C
ENST00000543662.3:c.1292G>C	ENSP00000439170.1:p.Arg431Thr
NM_001079515.2:c.1139G>C	NP_001072983.1:p.Arg380Thr
NM_001287801.1:c.1292G>C	NP_001274730.1:p.Arg431Thr
NM_001287802.1:c.800G>C	NP_001274731.1:p.Arg267Thr
NM_003193.4:c.1139G>C	NP_003184.1:p.Arg380Thr
NM_003193.5:c.1139G>C MANE Select	NP_003184.1:p.Arg380Thr
NM_001079515.3:c.1139G>C	NP_001072983.1:p.Arg380Thr
NM_001287801.2:c.1292G>C	NP_001274730.1:p.Arg431Thr
NM_001287802.2:c.800G>C	NP_001274731.1:p.Arg267Thr