Canonical Allele Identifier: CA6327650

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 303031
• ClinVar RCV Id: RCV002244748 ; RCV002520681
• dbSNP Id: rs200028435
• ExAC: 11:121032898 G / A
• gnomAD v2: 11-121032898-G-A
• gnomAD v3: 11-121162189-G-A
• gnomAD v4: 11-121162189-G-A
• COSMIC: COSM3718431
• MyVariant Identifiers: chr11:g.121032898G>A (hg19) ; chr11:g.121162189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162189G>A , CM000673.2:g.121162189G>A	GRCh38
NC_000011.9:g.121032898G>A , CM000673.1:g.121032898G>A	GRCh37
NC_000011.8:g.120538108G>A	NCBI36
NG_011633.1:g.64524G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.5091G>A (TECTA) MANE Select	ENSP00000376543.1:p.Met1697Ile
ENST00000642222.1:c.5076G>A (TECTA)	ENSP00000493855.1:p.Met1692Ile
ENST00000645008.1:c.2383G>A (TECTA)
ENST00000646278.1:n.1012G>A (TECTA)
ENST00000264037.2:c.5091G>A (TECTA)	ENSP00000264037.2:p.Met1697Ile
ENST00000392793.5:c.5091G>A (TECTA)	ENSP00000376543.1:p.Met1697Ile
NM_005422.2:c.5091G>A (TECTA)	NP_005413.2:p.Met1697Ile
NM_001378761.1:c.6033G>A (TBCEL-TECTA)	NP_001365690.1:p.Met2011Ile
NM_005422.4:c.5091G>A (TECTA) MANE Select	NP_005413.2:p.Met1697Ile