Canonical Allele Identifier: CA243472

Gene: IFT80 TRIM59-IFT80

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160381702C>T , CM000665.2:g.160381702C>T	GRCh38
NC_000003.11:g.160099490C>T , CM000665.1:g.160099490C>T	GRCh37
NC_000003.10:g.161582184C>T	NCBI36
NG_022932.1:g.22831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.60G>A (IFT80) MANE Select	ENSP00000312778.7:p.Val20=
ENST00000326448.11:c.60G>A (IFT80)	ENSP00000312778.7:p.Val20=
ENST00000465537.5:c.-352G>A (IFT80)	ENSP00000418602.1:n.-352G>A
ENST00000465972.5:n.397G>A (IFT80)
ENST00000468218.5:c.-280-130G>A (IFT80)	ENSP00000417057.1:n.-280-130G>A
ENST00000468327.1:n.276G>A (IFT80)
ENST00000472773.5:n.184G>A (IFT80)
ENST00000475677.5:c.-152-4162G>A (IFT80)	ENSP00000419458.1:n.-152-4162G>A
ENST00000477495.5:n.206G>A (IFT80)
ENST00000478370.5:c.-222-130G>A (IFT80)	ENSP00000420758.1:n.-222-130G>A
ENST00000478460.5:n.77-4162G>A (IFT80)
ENST00000478536.1:c.60G>A (IFT80)	ENSP00000419468.1:p.Val20=
ENST00000482317.5:c.60G>A (IFT80)	ENSP00000418497.1:p.Val20=
ENST00000483465.5:c.-352G>A (IFT80)	ENSP00000418196.1:n.-352G>A
ENST00000483754.1:c.953-15550G>A (TRIM59-IFT80)	ENSP00000456272.1:n.953-15550G>A
ENST00000486856.5:c.-130+2704G>A (IFT80)	ENSP00000417861.1:n.-130+2704G>A
ENST00000487943.5:n.1389G>A (IFT80)
ENST00000489004.5:c.60G>A (IFT80)	ENSP00000418455.1:p.Val20=
ENST00000496589.5:c.-352G>A (IFT80)	ENSP00000420646.1:n.-352G>A
ENST00000498145.1:n.447G>A (IFT80)
ENST00000498409.5:c.60G>A (IFT80)	ENSP00000420001.1:p.Val20=
NM_001190241.1:c.-352G>A (IFT80)	NP_001177170.1:n.-352G>A
NM_001190242.1:c.-352G>A (IFT80)	NP_001177171.1:n.-352G>A
NM_020800.2:c.60G>A (IFT80)	NP_065851.1:p.Val20=
NR_148401.1:n.1148-15550G>A (TRIM59-IFT80)
NR_148402.1:n.2304G>A (TRIM59-IFT80)
NR_148403.1:n.2571G>A (TRIM59-IFT80)
NM_020800.3:c.60G>A (IFT80) MANE Select	NP_065851.1:p.Val20=
NM_001190241.2:c.-352G>A (IFT80)	NP_001177170.1:n.-352G>A
NM_001190242.2:c.-352G>A (IFT80)	NP_001177171.1:n.-352G>A