Canonical Allele Identifier: CA229831290

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs200272533
• MyVariant Identifiers: chr11:g.121016438C>G (hg19) ; chr11:g.121145729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145729C>G , CM000673.2:g.121145729C>G	GRCh38
NC_000011.9:g.121016438C>G , CM000673.1:g.121016438C>G	GRCh37
NC_000011.8:g.120521648C>G	NCBI36
NG_011633.1:g.48064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3718C>G (TECTA) MANE Select	ENSP00000376543.1:p.Leu1240Val
ENST00000642222.1:c.3718C>G (TECTA)	ENSP00000493855.1:p.Leu1240Val
ENST00000645008.1:c.1025C>G (TECTA)
ENST00000264037.2:c.3718C>G (TECTA)	ENSP00000264037.2:p.Leu1240Val
ENST00000392793.5:c.3718C>G (TECTA)	ENSP00000376543.1:p.Leu1240Val
ENST00000478058.1:n.283C>G (TECTA)
NM_005422.2:c.3718C>G (TECTA)	NP_005413.2:p.Leu1240Val
NM_001378761.1:c.4675C>G (TBCEL-TECTA)	NP_001365690.1:p.Leu1559Val
NM_005422.4:c.3718C>G (TECTA) MANE Select	NP_005413.2:p.Leu1240Val