Canonical Allele Identifier: CA355193374

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160366127C>T , CM000665.2:g.160366127C>T	GRCh38
NC_000003.11:g.160083915C>T , CM000665.1:g.160083915C>T	GRCh37
NC_000003.10:g.161566609C>T	NCBI36
NG_022932.1:g.38406G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.465G>A (IFT80) MANE Select	NP_065851.1:p.Trp155Ter
ENST00000326448.12:c.465G>A (IFT80) MANE Select	ENSP00000312778.7:p.Trp155Ter
NM_001190241.1:c.54G>A (IFT80)	NP_001177170.1:p.Trp18Ter
NM_001190241.2:c.54G>A (IFT80)	NP_001177170.1:p.Trp18Ter
NM_001190242.1:c.54G>A (IFT80)	NP_001177171.1:p.Trp18Ter
NM_001190242.2:c.54G>A (IFT80)	NP_001177171.1:p.Trp18Ter
NM_020800.2:c.465G>A (IFT80)	NP_065851.1:p.Trp155Ter
NR_148401.1:n.1173G>A (TRIM59-IFT80)
NR_148402.1:n.2709G>A (TRIM59-IFT80)
NR_148403.1:n.2976G>A (TRIM59-IFT80)
ENST00000326448.11:c.465G>A (IFT80)	ENSP00000312778.7:p.Trp155Ter
ENST00000465537.5:c.54G>A (IFT80)	ENSP00000418602.1:p.Trp18Ter
ENST00000468218.5:c.54G>A (IFT80)	ENSP00000417057.1:p.Trp18Ter
ENST00000472773.5:n.564-8549G>A (IFT80)
ENST00000475677.5:c.54G>A (IFT80)	ENSP00000419458.1:p.Trp18Ter
ENST00000478370.5:c.54G>A (IFT80)	ENSP00000420758.1:p.Trp18Ter
ENST00000478460.5:n.257-8549G>A (IFT80)
ENST00000483465.5:c.54G>A (IFT80)	ENSP00000418196.1:p.Trp18Ter
ENST00000483754.1:c.978G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Trp326Ter
ENST00000484963.5:c.120G>A (IFT80)	ENSP00000420260.1:p.Trp40Ter
ENST00000486856.5:c.54G>A (IFT80)	ENSP00000417861.1:p.Trp18Ter
ENST00000487943.5:n.1769-8549G>A (IFT80)
ENST00000496589.5:c.54G>A (IFT80)	ENSP00000420646.1:p.Trp18Ter
ENST00000498409.5:c.465G>A (IFT80)	ENSP00000420001.1:p.Trp155Ter