Canonical Allele Identifier: CA344944893

Gene: TBCE

Linked Data

• ClinVar Variation Id: 1351219
• ClinVar RCV Id: RCV002044565
• dbSNP Id: rs1430202343
• gnomAD v3: 1-235438800-T-C
• gnomAD v4: 1-235438800-T-C
• MyVariant Identifiers: chr1:g.235602115T>C (hg19) ; chr1:g.235438800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438800T>C , CM000663.2:g.235438800T>C	GRCh38
NC_000001.10:g.235602115T>C , CM000663.1:g.235602115T>C	GRCh37
NC_000001.9:g.233668738T>C	NCBI36
NG_009230.1:g.76388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.959T>C	ENSP00000355560.4:p.Leu320Pro
ENST00000406207.5:c.1148T>C	ENSP00000384571.1:p.Leu383Pro
ENST00000472011.6:n.1872T>C
ENST00000543662.4:c.1301T>C	ENSP00000439170.1:p.Leu434Pro
ENST00000642339.1:c.*845T>C	ENSP00000495425.1:n.*845T>C
ENST00000642431.1:c.1725T>C
ENST00000642463.1:c.*1046T>C	ENSP00000495007.1:n.*1046T>C
ENST00000642503.1:c.*922T>C	ENSP00000494334.1:n.*922T>C
ENST00000642610.2:c.1148T>C MANE Select	ENSP00000494796.1:p.Leu383Pro
ENST00000642764.1:n.1979T>C
ENST00000643125.1:c.*163T>C	ENSP00000494102.1:n.*163T>C
ENST00000643142.1:c.*639T>C	ENSP00000494755.1:n.*639T>C
ENST00000643238.1:c.*168T>C	ENSP00000495916.1:n.*168T>C
ENST00000643410.1:c.*438T>C	ENSP00000495030.1:n.*438T>C
ENST00000643487.1:n.1835T>C
ENST00000643524.1:c.*733T>C	ENSP00000494026.1:n.*733T>C
ENST00000643615.1:c.*1116+1326T>C	ENSP00000496103.1:n.*1116+1326T>C
ENST00000643993.1:n.1284T>C
ENST00000643994.1:c.*1148T>C	ENSP00000496322.1:n.*1148T>C
ENST00000644037.1:c.*1358T>C	ENSP00000496408.1:n.*1358T>C
ENST00000644055.1:c.*1773T>C	ENSP00000496307.1:n.*1773T>C
ENST00000644126.1:n.2820T>C
ENST00000644217.1:c.1148T>C	ENSP00000494646.1:p.Leu383Pro
ENST00000644265.1:c.517T>C
ENST00000644578.1:c.962T>C	ENSP00000495953.1:p.Leu321Pro
ENST00000644604.1:c.1148T>C	ENSP00000495961.1:p.Leu383Pro
ENST00000644680.1:c.*1669T>C	ENSP00000496173.1:n.*1669T>C
ENST00000644838.1:c.*531T>C	ENSP00000495910.1:n.*531T>C
ENST00000644910.1:c.1755T>C
ENST00000645205.1:c.1148T>C	ENSP00000495823.1:p.Leu383Pro
ENST00000645351.1:c.1148T>C	ENSP00000494319.1:p.Leu383Pro
ENST00000645551.1:c.*865T>C	ENSP00000495928.1:n.*865T>C
ENST00000645578.1:c.*922T>C	ENSP00000496495.1:n.*922T>C
ENST00000645582.1:c.*978T>C	ENSP00000494980.1:n.*978T>C
ENST00000645655.1:c.1148T>C	ENSP00000495202.1:p.Leu383Pro
ENST00000645662.1:c.*607T>C	ENSP00000495964.1:n.*607T>C
ENST00000645836.1:c.*922T>C	ENSP00000493915.1:n.*922T>C
ENST00000645899.1:c.1148T>C	ENSP00000496773.1:p.Leu383Pro
ENST00000645964.1:c.*1014T>C	ENSP00000494208.1:n.*1014T>C
ENST00000646104.1:c.*1616T>C	ENSP00000495475.1:n.*1616T>C
ENST00000646186.1:c.*820T>C	ENSP00000493806.1:n.*820T>C
ENST00000646286.1:c.*1041T>C	ENSP00000494291.1:n.*1041T>C
ENST00000646463.1:c.*913T>C	ENSP00000494541.1:n.*913T>C
ENST00000646528.1:c.*1864T>C	ENSP00000496553.1:n.*1864T>C
ENST00000646536.1:c.*438T>C	ENSP00000494801.1:n.*438T>C
ENST00000646624.1:c.1148T>C	ENSP00000494575.1:p.Leu383Pro
ENST00000646821.1:c.*438T>C	ENSP00000495257.1:n.*438T>C
ENST00000646842.1:n.592T>C
ENST00000646848.1:c.*363T>C	ENSP00000495831.1:n.*363T>C
ENST00000647186.1:c.1148T>C	ENSP00000494775.1:p.Leu383Pro
ENST00000647233.1:n.2128T>C
ENST00000647322.1:c.739T>C
ENST00000647418.1:c.*922T>C	ENSP00000493552.1:n.*922T>C
ENST00000647428.1:c.809T>C	ENSP00000495630.1:p.Leu270Pro
ENST00000651186.1:c.809T>C	ENSP00000498645.1:p.Leu270Pro
ENST00000366601.7:c.1148T>C	ENSP00000355560.3:p.Leu383Pro
ENST00000406207.4:c.1148T>C	ENSP00000384571.1:p.Leu383Pro
ENST00000472011.5:n.1200T>C
ENST00000543662.3:c.1301T>C	ENSP00000439170.1:p.Leu434Pro
NM_001079515.2:c.1148T>C	NP_001072983.1:p.Leu383Pro
NM_001287801.1:c.1301T>C	NP_001274730.1:p.Leu434Pro
NM_001287802.1:c.809T>C	NP_001274731.1:p.Leu270Pro
NM_003193.4:c.1148T>C	NP_003184.1:p.Leu383Pro
NM_003193.5:c.1148T>C MANE Select	NP_003184.1:p.Leu383Pro
NM_001079515.3:c.1148T>C	NP_001072983.1:p.Leu383Pro
NM_001287801.2:c.1301T>C	NP_001274730.1:p.Leu434Pro
NM_001287802.2:c.809T>C	NP_001274731.1:p.Leu270Pro