Canonical Allele Identifier: CA6327783
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 236058
ClinVar RCV Id: RCV000225064 RCV000264805 RCV000479439 RCV000622759 RCV000826186 RCV002287396
dbSNP Id: rs140236996
ExAC: 11:121038773 C / T
gnomAD v2: 11-121038773-C-T
gnomAD v3: 11-121168064-C-T
gnomAD v4: 11-121168064-C-T
MyVariant Identifiers: chr11:g.121038773C>T (hg19) chr11:g.121168064C>T (hg38)
PubMed: PMID:9150164 PMID:9590290 PMID:12746400 PMID:17431902 PMID:18022253 PMID:18797289 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:23891399 PMID:24586623
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168064C>T , CM000673.2:g.121168064C>T GRCh38
NC_000011.9:g.121038773C>T , CM000673.1:g.121038773C>T GRCh37
NC_000011.8:g.120543983C>T NCBI36
NG_011633.1:g.70399C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.5597C>T (TECTA) MANE Select ENSP00000376543.1:p.Thr1866Met
ENST00000642222.1:c.5582C>T (TECTA) ENSP00000493855.1:p.Thr1861Met
ENST00000645008.1:c.2889C>T (TECTA)
ENST00000646278.1:n.1518C>T (TECTA)
ENST00000264037.2:c.5597C>T (TECTA) ENSP00000264037.2:p.Thr1866Met
ENST00000392793.5:c.5597C>T (TECTA) ENSP00000376543.1:p.Thr1866Met
NM_005422.2:c.5597C>T (TECTA) NP_005413.2:p.Thr1866Met
NM_001378761.1:c.6539C>T (TBCEL-TECTA) NP_001365690.1:p.Thr2180Met
NM_005422.4:c.5597C>T (TECTA) MANE Select NP_005413.2:p.Thr1866Met
Search 100 bp 5'
Search 100 bp 3'