Canonical Allele Identifier: CA185821

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 180103
• ClinVar RCV Id: RCV000156907 ; RCV000326930 ; RCV000381584 ; RCV000756761 ; RCV002267729
• dbSNP Id: rs200544452
• ExAC: 11:121028725 T / C
• gnomAD v2: 11-121028725-T-C
• gnomAD v3: 11-121158016-T-C
• gnomAD v4: 11-121158016-T-C
• MyVariant Identifiers: chr11:g.121028725T>C (hg19) ; chr11:g.121158016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121158016T>C , CM000673.2:g.121158016T>C	GRCh38
NC_000011.9:g.121028725T>C , CM000673.1:g.121028725T>C	GRCh37
NC_000011.8:g.120533935T>C	NCBI36
NG_011633.1:g.60351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4481T>C (TECTA) MANE Select	ENSP00000376543.1:p.Val1494Ala
ENST00000642222.1:c.4481T>C (TECTA)	ENSP00000493855.1:p.Val1494Ala
ENST00000645008.1:c.1788T>C (TECTA)
ENST00000646278.1:n.417T>C (TECTA)
ENST00000264037.2:c.4481T>C (TECTA)	ENSP00000264037.2:p.Val1494Ala
ENST00000392793.5:c.4481T>C (TECTA)	ENSP00000376543.1:p.Val1494Ala
NM_005422.2:c.4481T>C (TECTA)	NP_005413.2:p.Val1494Ala
NM_001378761.1:c.5438T>C (TBCEL-TECTA)	NP_001365690.1:p.Val1813Ala
NM_005422.4:c.4481T>C (TECTA) MANE Select	NP_005413.2:p.Val1494Ala