Canonical Allele Identifier: CA383028221

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1946983352
• gnomAD v4: 11-121160160-C-A
• MyVariant Identifiers: chr11:g.121030869C>A (hg19) ; chr11:g.121160160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121160160C>A , CM000673.2:g.121160160C>A	GRCh38
NC_000011.9:g.121030869C>A , CM000673.1:g.121030869C>A	GRCh37
NC_000011.8:g.120536079C>A	NCBI36
NG_011633.1:g.62495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4715C>A (TECTA) MANE Select	ENSP00000376543.1:p.Pro1572Gln
ENST00000642222.1:c.4715C>A (TECTA)	ENSP00000493855.1:p.Pro1572Gln
ENST00000645008.1:c.2022C>A (TECTA)
ENST00000646278.1:n.651C>A (TECTA)
ENST00000264037.2:c.4715C>A (TECTA)	ENSP00000264037.2:p.Pro1572Gln
ENST00000392793.5:c.4715C>A (TECTA)	ENSP00000376543.1:p.Pro1572Gln
NM_005422.2:c.4715C>A (TECTA)	NP_005413.2:p.Pro1572Gln
NM_001378761.1:c.5672C>A (TBCEL-TECTA)	NP_001365690.1:p.Pro1891Gln
NM_005422.4:c.4715C>A (TECTA) MANE Select	NP_005413.2:p.Pro1572Gln