Canonical Allele Identifier: CA2685322
Community Standard Title: NM_020800.3(IFT80):c.879C>T (p.Val293=)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160319838G>A , CM000665.2:g.160319838G>A GRCh38
NC_000003.11:g.160037626G>A , CM000665.1:g.160037626G>A GRCh37
NC_000003.10:g.161520320G>A NCBI36
NG_022932.1:g.84695C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.879C>T (IFT80) MANE Select NP_065851.1:p.Val293=
ENST00000326448.12:c.879C>T (IFT80) MANE Select ENSP00000312778.7:p.Val293=
NM_001190241.1:c.468C>T (IFT80) NP_001177170.1:p.Val156=
NM_001190241.2:c.468C>T (IFT80) NP_001177170.1:p.Val156=
NM_001190242.1:c.468C>T (IFT80) NP_001177171.1:p.Val156=
NM_001190242.2:c.468C>T (IFT80) NP_001177171.1:p.Val156=
NM_020800.2:c.879C>T (IFT80) NP_065851.1:p.Val293=
NR_148401.1:n.1587C>T (TRIM59-IFT80)
NR_148402.1:n.3123C>T (TRIM59-IFT80)
NR_148403.1:n.3390C>T (TRIM59-IFT80)
ENST00000326448.11:c.879C>T (IFT80) ENSP00000312778.7:p.Val293=
ENST00000461213.1:n.310C>T (IFT80)
ENST00000472555.5:c.416C>T (IFT80)
ENST00000478460.5:n.586C>T (IFT80)
ENST00000483465.5:c.468C>T (IFT80) ENSP00000418196.1:p.Val156=
ENST00000483754.1:c.1392C>T (TRIM59-IFT80) ENSP00000456272.1:p.Val464=
ENST00000487943.5:n.2098C>T (IFT80)
ENST00000496589.5:c.468C>T (IFT80) ENSP00000420646.1:p.Val156=