Canonical Allele Identifier: CA229831559
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs145456927

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145882G>T , CM000673.2:g.121145882G>T GRCh38
NC_000011.9:g.121016591G>T , CM000673.1:g.121016591G>T GRCh37
NC_000011.8:g.120521801G>T NCBI36
NG_011633.1:g.48217G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3871G>T (TECTA) MANE Select ENSP00000376543.1:p.Val1291Leu
ENST00000642222.1:c.3871G>T (TECTA) ENSP00000493855.1:p.Val1291Leu
ENST00000645008.1:c.1178G>T (TECTA)
ENST00000264037.2:c.3871G>T (TECTA) ENSP00000264037.2:p.Val1291Leu
ENST00000392793.5:c.3871G>T (TECTA) ENSP00000376543.1:p.Val1291Leu
ENST00000478058.1:n.436G>T (TECTA)
NM_005422.2:c.3871G>T (TECTA) NP_005413.2:p.Val1291Leu
NM_001378761.1:c.4828G>T (TBCEL-TECTA) NP_001365690.1:p.Val1610Leu
NM_005422.4:c.3871G>T (TECTA) MANE Select NP_005413.2:p.Val1291Leu