Canonical Allele Identifier: CA383022850

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 1685168
• ClinVar RCV Id: RCV002248895
• dbSNP Id: rs1946831915
• MyVariant Identifiers: chr11:g.121016667G>C (hg19) ; chr11:g.121145958G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145958G>C , CM000673.2:g.121145958G>C	GRCh38
NC_000011.9:g.121016667G>C , CM000673.1:g.121016667G>C	GRCh37
NC_000011.8:g.120521877G>C	NCBI36
NG_011633.1:g.48293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3947G>C (TECTA) MANE Select	ENSP00000376543.1:p.Ser1316Thr
ENST00000642222.1:c.3947G>C (TECTA)	ENSP00000493855.1:p.Ser1316Thr
ENST00000645008.1:c.1254G>C (TECTA)
ENST00000264037.2:c.3947G>C (TECTA)	ENSP00000264037.2:p.Ser1316Thr
ENST00000392793.5:c.3947G>C (TECTA)	ENSP00000376543.1:p.Ser1316Thr
ENST00000478058.1:n.512G>C (TECTA)
NM_005422.2:c.3947G>C (TECTA)	NP_005413.2:p.Ser1316Thr
NM_001378761.1:c.4904G>C (TBCEL-TECTA)	NP_001365690.1:p.Ser1635Thr
NM_005422.4:c.3947G>C (TECTA) MANE Select	NP_005413.2:p.Ser1316Thr