Canonical Allele Identifier: CA383032271
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2792701
ClinVar RCV Id: RCV003667398
dbSNP Id: rs1247677993
gnomAD v4: 11-121162322-C-T
COSMIC: COSM4643513
MyVariant Identifiers: chr11:g.121033031C>T (hg19) chr11:g.121162322C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162322C>T , CM000673.2:g.121162322C>T GRCh38
NC_000011.9:g.121033031C>T , CM000673.1:g.121033031C>T GRCh37
NC_000011.8:g.120538241C>T NCBI36
NG_011633.1:g.64657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5224C>T (TECTA) MANE Select ENSP00000376543.1:p.Arg1742Cys
ENST00000642222.1:c.5209C>T (TECTA) ENSP00000493855.1:p.Arg1737Cys
ENST00000645008.1:c.2516C>T (TECTA)
ENST00000646278.1:n.1145C>T (TECTA)
ENST00000264037.2:c.5224C>T (TECTA) ENSP00000264037.2:p.Arg1742Cys
ENST00000392793.5:c.5224C>T (TECTA) ENSP00000376543.1:p.Arg1742Cys
NM_005422.2:c.5224C>T (TECTA) NP_005413.2:p.Arg1742Cys
NM_001378761.1:c.6166C>T (TBCEL-TECTA) NP_001365690.1:p.Arg2056Cys
NM_005422.4:c.5224C>T (TECTA) MANE Select NP_005413.2:p.Arg1742Cys
Search 100 bp 5'
Search 100 bp 3'