Canonical Allele Identifier: CA383022326

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 2969140
• ClinVar RCV Id: RCV003826810
• gnomAD v4: 11-121145784-T-A
• MyVariant Identifiers: chr11:g.121016493T>A (hg19) ; chr11:g.121145784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145784T>A , CM000673.2:g.121145784T>A	GRCh38
NC_000011.9:g.121016493T>A , CM000673.1:g.121016493T>A	GRCh37
NC_000011.8:g.120521703T>A	NCBI36
NG_011633.1:g.48119T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3773T>A (TECTA) MANE Select	ENSP00000376543.1:p.Leu1258Gln
ENST00000642222.1:c.3773T>A (TECTA)	ENSP00000493855.1:p.Leu1258Gln
ENST00000645008.1:c.1080T>A (TECTA)
ENST00000264037.2:c.3773T>A (TECTA)	ENSP00000264037.2:p.Leu1258Gln
ENST00000392793.5:c.3773T>A (TECTA)	ENSP00000376543.1:p.Leu1258Gln
ENST00000478058.1:n.338T>A (TECTA)
NM_005422.2:c.3773T>A (TECTA)	NP_005413.2:p.Leu1258Gln
NM_001378761.1:c.4730T>A (TBCEL-TECTA)	NP_001365690.1:p.Leu1577Gln
NM_005422.4:c.3773T>A (TECTA) MANE Select	NP_005413.2:p.Leu1258Gln