Canonical Allele Identifier: CA2685460

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160366046C>T , CM000665.2:g.160366046C>T	GRCh38
NC_000003.11:g.160083834C>T , CM000665.1:g.160083834C>T	GRCh37
NC_000003.10:g.161566528C>T	NCBI36
NG_022932.1:g.38487G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.546G>A (IFT80) MANE Select	NP_065851.1:p.Leu182=
ENST00000326448.12:c.546G>A (IFT80) MANE Select	ENSP00000312778.7:p.Leu182=
NM_001190241.1:c.135G>A (IFT80)	NP_001177170.1:p.Leu45=
NM_001190241.2:c.135G>A (IFT80)	NP_001177170.1:p.Leu45=
NM_001190242.1:c.135G>A (IFT80)	NP_001177171.1:p.Leu45=
NM_001190242.2:c.135G>A (IFT80)	NP_001177171.1:p.Leu45=
NM_020800.2:c.546G>A (IFT80)	NP_065851.1:p.Leu182=
NR_148401.1:n.1254G>A (TRIM59-IFT80)
NR_148402.1:n.2790G>A (TRIM59-IFT80)
NR_148403.1:n.3057G>A (TRIM59-IFT80)
ENST00000326448.11:c.546G>A (IFT80)	ENSP00000312778.7:p.Leu182=
ENST00000465537.5:c.135G>A (IFT80)	ENSP00000418602.1:p.Leu45=
ENST00000472773.5:n.564-8468G>A (IFT80)
ENST00000475677.5:c.135G>A (IFT80)	ENSP00000419458.1:p.Leu45=
ENST00000478460.5:n.257-8468G>A (IFT80)
ENST00000483465.5:c.135G>A (IFT80)	ENSP00000418196.1:p.Leu45=
ENST00000483754.1:c.1059G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Leu353=
ENST00000484963.5:c.154+47G>A (IFT80)	ENSP00000420260.1:n.154+47G>A
ENST00000487943.5:n.1769-8468G>A (IFT80)
ENST00000496589.5:c.135G>A (IFT80)	ENSP00000420646.1:p.Leu45=