Canonical Allele Identifier: CA2685523
Community Standard Title: NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160377468G>A , CM000665.2:g.160377468G>A GRCh38
NC_000003.11:g.160095256G>A , CM000665.1:g.160095256G>A GRCh37
NC_000003.10:g.161577950G>A NCBI36
NG_022932.1:g.27065C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.332C>T (IFT80) MANE Select NP_065851.1:p.Ala111Val
ENST00000326448.12:c.332C>T (IFT80) MANE Select ENSP00000312778.7:p.Ala111Val
NM_001190241.1:c.-80C>T (IFT80) NP_001177170.1:n.-80C>T
NM_001190241.2:c.-80C>T (IFT80) NP_001177170.1:n.-80C>T
NM_001190242.1:c.-80C>T (IFT80) NP_001177171.1:n.-80C>T
NM_001190242.2:c.-80C>T (IFT80) NP_001177171.1:n.-80C>T
NM_020800.2:c.332C>T (IFT80) NP_065851.1:p.Ala111Val
NR_148401.1:n.1148-11316C>T (TRIM59-IFT80)
NR_148402.1:n.2576C>T (TRIM59-IFT80)
NR_148403.1:n.2843C>T (TRIM59-IFT80)
ENST00000326448.11:c.332C>T (IFT80) ENSP00000312778.7:p.Ala111Val
ENST00000465537.5:c.-80C>T (IFT80) ENSP00000418602.1:n.-80C>T
ENST00000465972.5:n.537C>T (IFT80)
ENST00000468218.5:c.-80C>T (IFT80) ENSP00000417057.1:n.-80C>T
ENST00000468327.1:n.548C>T (IFT80)
ENST00000472773.5:n.456C>T (IFT80)
ENST00000475677.5:c.-80C>T (IFT80) ENSP00000419458.1:n.-80C>T
ENST00000477495.5:n.478C>T (IFT80)
ENST00000478370.5:c.-80C>T (IFT80) ENSP00000420758.1:n.-80C>T
ENST00000478460.5:n.149C>T (IFT80)
ENST00000482317.5:c.*69C>T (IFT80) ENSP00000418497.1:n.*69C>T
ENST00000483465.5:c.-80C>T (IFT80) ENSP00000418196.1:n.-80C>T
ENST00000483754.1:c.953-11316C>T (TRIM59-IFT80) ENSP00000456272.1:n.953-11316C>T
ENST00000486856.5:c.-80C>T (IFT80) ENSP00000417861.1:n.-80C>T
ENST00000487943.5:n.1661C>T (IFT80)
ENST00000489004.5:c.332C>T (IFT80) ENSP00000418455.1:p.Ala111Val
ENST00000496589.5:c.-80C>T (IFT80) ENSP00000420646.1:n.-80C>T
ENST00000498409.5:c.332C>T (IFT80) ENSP00000420001.1:p.Ala111Val