Canonical Allele Identifier: CA355195249
Community Standard Title: NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160384573C>A , CM000665.2:g.160384573C>A GRCh38
NC_000003.11:g.160102361C>A , CM000665.1:g.160102361C>A GRCh37
NC_000003.10:g.161585055C>A NCBI36
NG_022932.1:g.19960G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.28G>T (IFT80) MANE Select NP_065851.1:p.Glu10Ter
ENST00000326448.12:c.28G>T (IFT80) MANE Select ENSP00000312778.7:p.Glu10Ter
NM_001190241.1:c.-604G>T (IFT80) NP_001177170.1:n.-604G>T
NM_001190241.2:c.-604G>T (IFT80) NP_001177170.1:n.-604G>T
NM_020800.2:c.28G>T (IFT80) NP_065851.1:p.Glu10Ter
NR_148401.1:n.1148-18421G>T (TRIM59-IFT80)
NR_148402.1:n.1151G>T (TRIM59-IFT80)
NR_148403.1:n.1418G>T (TRIM59-IFT80)
ENST00000326448.11:c.28G>T (IFT80) ENSP00000312778.7:p.Glu10Ter
ENST00000465537.5:c.-375+16G>T (IFT80) ENSP00000418602.1:n.-375+16G>T
ENST00000465972.5:n.145G>T (IFT80)
ENST00000467254.1:n.176G>T (IFT80)
ENST00000468218.5:c.-290G>T (IFT80) ENSP00000417057.1:n.-290G>T
ENST00000468327.1:n.242G>T (IFT80)
ENST00000472773.5:n.152G>T (IFT80)
ENST00000475677.5:c.-152-7033G>T (IFT80) ENSP00000419458.1:n.-152-7033G>T
ENST00000477495.5:n.174G>T (IFT80)
ENST00000478370.5:c.-232G>T (IFT80) ENSP00000420758.1:n.-232G>T
ENST00000478460.5:n.77-7033G>T (IFT80)
ENST00000478536.1:c.28G>T (IFT80) ENSP00000419468.1:p.Glu10Ter
ENST00000482317.5:c.28G>T (IFT80) ENSP00000418497.1:p.Glu10Ter
ENST00000483754.1:c.953-18421G>T (TRIM59-IFT80) ENSP00000456272.1:n.953-18421G>T
ENST00000486856.5:c.-297G>T (IFT80) ENSP00000417861.1:n.-297G>T
ENST00000487943.5:n.236G>T (IFT80)
ENST00000489004.5:c.28G>T (IFT80) ENSP00000418455.1:p.Glu10Ter
ENST00000496589.5:c.-604G>T (IFT80) ENSP00000420646.1:n.-604G>T
ENST00000498145.1:n.195G>T (IFT80)
ENST00000498409.5:c.28G>T (IFT80) ENSP00000420001.1:p.Glu10Ter