Canonical Allele Identifier: CA2685602

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160384588T>G , CM000665.2:g.160384588T>G	GRCh38
NC_000003.11:g.160102376T>G , CM000665.1:g.160102376T>G	GRCh37
NC_000003.10:g.161585070T>G	NCBI36
NG_022932.1:g.19945A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.13A>C (IFT80) MANE Select	NP_065851.1:p.Ile5Leu
ENST00000326448.12:c.13A>C (IFT80) MANE Select	ENSP00000312778.7:p.Ile5Leu
NM_001190241.1:c.-619A>C (IFT80)	NP_001177170.1:n.-619A>C
NM_001190241.2:c.-619A>C (IFT80)	NP_001177170.1:n.-619A>C
NM_020800.2:c.13A>C (IFT80)	NP_065851.1:p.Ile5Leu
NR_148401.1:n.1148-18436A>C (TRIM59-IFT80)
NR_148402.1:n.1136A>C (TRIM59-IFT80)
NR_148403.1:n.1403A>C (TRIM59-IFT80)
ENST00000326448.11:c.13A>C (IFT80)	ENSP00000312778.7:p.Ile5Leu
ENST00000465537.5:c.-375+1A>C (IFT80)	ENSP00000418602.1:n.-375+1A>C
ENST00000465972.5:n.130A>C (IFT80)
ENST00000467254.1:n.161A>C (IFT80)
ENST00000468218.5:c.-305A>C (IFT80)	ENSP00000417057.1:n.-305A>C
ENST00000468327.1:n.227A>C (IFT80)
ENST00000472773.5:n.137A>C (IFT80)
ENST00000475677.5:c.-152-7048A>C (IFT80)	ENSP00000419458.1:n.-152-7048A>C
ENST00000477495.5:n.159A>C (IFT80)
ENST00000478370.5:c.-247A>C (IFT80)	ENSP00000420758.1:n.-247A>C
ENST00000478460.5:n.77-7048A>C (IFT80)
ENST00000478536.1:c.13A>C (IFT80)	ENSP00000419468.1:p.Ile5Leu
ENST00000482317.5:c.13A>C (IFT80)	ENSP00000418497.1:p.Ile5Leu
ENST00000483754.1:c.953-18436A>C (TRIM59-IFT80)	ENSP00000456272.1:n.953-18436A>C
ENST00000486856.5:c.-312A>C (IFT80)	ENSP00000417861.1:n.-312A>C
ENST00000487943.5:n.221A>C (IFT80)
ENST00000489004.5:c.13A>C (IFT80)	ENSP00000418455.1:p.Ile5Leu
ENST00000496589.5:c.-619A>C (IFT80)	ENSP00000420646.1:n.-619A>C
ENST00000498145.1:n.180A>C (IFT80)
ENST00000498409.5:c.13A>C (IFT80)	ENSP00000420001.1:p.Ile5Leu