Canonical Allele Identifier: CA355192810
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160356079C>T , CM000665.2:g.160356079C>T GRCh38
NC_000003.11:g.160073867C>T , CM000665.1:g.160073867C>T GRCh37
NC_000003.10:g.161556561C>T NCBI36
NG_022932.1:g.48454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.711G>A (IFT80) MANE Select ENSP00000312778.7:p.Trp237Ter
ENST00000326448.11:c.711G>A (IFT80) ENSP00000312778.7:p.Trp237Ter
ENST00000465537.5:c.300G>A (IFT80) ENSP00000418602.1:p.Trp100Ter
ENST00000472555.5:c.83G>A (IFT80)
ENST00000478460.5:n.418G>A (IFT80)
ENST00000483465.5:c.300G>A (IFT80) ENSP00000418196.1:p.Trp100Ter
ENST00000483754.1:c.1224G>A (TRIM59-IFT80) ENSP00000456272.1:p.Trp408Ter
ENST00000484963.5:c.316G>A (IFT80) ENSP00000420260.1:n.316G>A
ENST00000487943.5:n.1930G>A (IFT80)
ENST00000496589.5:c.300G>A (IFT80) ENSP00000420646.1:p.Trp100Ter
NM_001190241.1:c.300G>A (IFT80) NP_001177170.1:p.Trp100Ter
NM_001190242.1:c.300G>A (IFT80) NP_001177171.1:p.Trp100Ter
NM_020800.2:c.711G>A (IFT80) NP_065851.1:p.Trp237Ter
NR_148401.1:n.1419G>A (TRIM59-IFT80)
NR_148402.1:n.2955G>A (TRIM59-IFT80)
NR_148403.1:n.3222G>A (TRIM59-IFT80)
NM_020800.3:c.711G>A (IFT80) MANE Select NP_065851.1:p.Trp237Ter
NM_001190241.2:c.300G>A (IFT80) NP_001177170.1:p.Trp100Ter
NM_001190242.2:c.300G>A (IFT80) NP_001177171.1:p.Trp100Ter