Canonical Allele Identifier: CA6327301

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 440328
• ClinVar RCV Id: RCV000507397 ; RCV001591160
• dbSNP Id: rs770133038
• ExAC: 11:121016577 C / T
• gnomAD v2: 11-121016577-C-T
• gnomAD v3: 11-121145868-C-T
• gnomAD v4: 11-121145868-C-T
• COSMIC: COSM3444322
• MyVariant Identifiers: chr11:g.121016577C>T (hg19) ; chr11:g.121145868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145868C>T , CM000673.2:g.121145868C>T	GRCh38
NC_000011.9:g.121016577C>T , CM000673.1:g.121016577C>T	GRCh37
NC_000011.8:g.120521787C>T	NCBI36
NG_011633.1:g.48203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3857C>T (TECTA) MANE Select	ENSP00000376543.1:p.Pro1286Leu
ENST00000642222.1:c.3857C>T (TECTA)	ENSP00000493855.1:p.Pro1286Leu
ENST00000645008.1:c.1164C>T (TECTA)
ENST00000264037.2:c.3857C>T (TECTA)	ENSP00000264037.2:p.Pro1286Leu
ENST00000392793.5:c.3857C>T (TECTA)	ENSP00000376543.1:p.Pro1286Leu
ENST00000478058.1:n.422C>T (TECTA)
NM_005422.2:c.3857C>T (TECTA)	NP_005413.2:p.Pro1286Leu
NM_001378761.1:c.4814C>T (TBCEL-TECTA)	NP_001365690.1:p.Pro1605Leu
NM_005422.4:c.3857C>T (TECTA) MANE Select	NP_005413.2:p.Pro1286Leu