Canonical Allele Identifier: CA383022358

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs759739644
• MyVariant Identifiers: chr11:g.121016498G>C (hg19) ; chr11:g.121145789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145789G>C , CM000673.2:g.121145789G>C	GRCh38
NC_000011.9:g.121016498G>C , CM000673.1:g.121016498G>C	GRCh37
NC_000011.8:g.120521708G>C	NCBI36
NG_011633.1:g.48124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3778G>C (TECTA) MANE Select	ENSP00000376543.1:p.Ala1260Pro
ENST00000642222.1:c.3778G>C (TECTA)	ENSP00000493855.1:p.Ala1260Pro
ENST00000645008.1:c.1085G>C (TECTA)
ENST00000264037.2:c.3778G>C (TECTA)	ENSP00000264037.2:p.Ala1260Pro
ENST00000392793.5:c.3778G>C (TECTA)	ENSP00000376543.1:p.Ala1260Pro
ENST00000478058.1:n.343G>C (TECTA)
NM_005422.2:c.3778G>C (TECTA)	NP_005413.2:p.Ala1260Pro
NM_001378761.1:c.4735G>C (TBCEL-TECTA)	NP_001365690.1:p.Ala1579Pro
NM_005422.4:c.3778G>C (TECTA) MANE Select	NP_005413.2:p.Ala1260Pro