Canonical Allele Identifier: CA355195009

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160381634A>C , CM000665.2:g.160381634A>C	GRCh38
NC_000003.11:g.160099422A>C , CM000665.1:g.160099422A>C	GRCh37
NC_000003.10:g.161582116A>C	NCBI36
NG_022932.1:g.22899T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.128T>G (IFT80) MANE Select	NP_065851.1:p.Leu43Ter
ENST00000326448.12:c.128T>G (IFT80) MANE Select	ENSP00000312778.7:p.Leu43Ter
NM_001190241.1:c.-284T>G (IFT80)	NP_001177170.1:n.-284T>G
NM_001190241.2:c.-284T>G (IFT80)	NP_001177170.1:n.-284T>G
NM_001190242.1:c.-284T>G (IFT80)	NP_001177171.1:n.-284T>G
NM_001190242.2:c.-284T>G (IFT80)	NP_001177171.1:n.-284T>G
NM_020800.2:c.128T>G (IFT80)	NP_065851.1:p.Leu43Ter
NR_148401.1:n.1148-15482T>G (TRIM59-IFT80)
NR_148402.1:n.2372T>G (TRIM59-IFT80)
NR_148403.1:n.2639T>G (TRIM59-IFT80)
ENST00000326448.11:c.128T>G (IFT80)	ENSP00000312778.7:p.Leu43Ter
ENST00000465537.5:c.-284T>G (IFT80)	ENSP00000418602.1:n.-284T>G
ENST00000465972.5:n.465T>G (IFT80)
ENST00000468218.5:c.-280-62T>G (IFT80)	ENSP00000417057.1:n.-280-62T>G
ENST00000468327.1:n.344T>G (IFT80)
ENST00000472773.5:n.252T>G (IFT80)
ENST00000475677.5:c.-152-4094T>G (IFT80)	ENSP00000419458.1:n.-152-4094T>G
ENST00000477495.5:n.274T>G (IFT80)
ENST00000478370.5:c.-222-62T>G (IFT80)	ENSP00000420758.1:n.-222-62T>G
ENST00000478460.5:n.77-4094T>G (IFT80)
ENST00000478536.1:c.128T>G (IFT80)	ENSP00000419468.1:p.Leu43Ter
ENST00000482317.5:c.128T>G (IFT80)	ENSP00000418497.1:p.Leu43Ter
ENST00000483465.5:c.-284T>G (IFT80)	ENSP00000418196.1:n.-284T>G
ENST00000483754.1:c.953-15482T>G (TRIM59-IFT80)	ENSP00000456272.1:n.953-15482T>G
ENST00000486856.5:c.-130+2772T>G (IFT80)	ENSP00000417861.1:n.-130+2772T>G
ENST00000487943.5:n.1457T>G (IFT80)
ENST00000489004.5:c.128T>G (IFT80)	ENSP00000418455.1:p.Leu43Ter
ENST00000496589.5:c.-284T>G (IFT80)	ENSP00000420646.1:n.-284T>G
ENST00000498145.1:n.515T>G (IFT80)
ENST00000498409.5:c.128T>G (IFT80)	ENSP00000420001.1:p.Leu43Ter