Canonical Allele Identifier: CA2685253
Community Standard Title: NM_020800.3(IFT80):c.1104A>T (p.Ile368=)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160303962T>A , CM000665.2:g.160303962T>A GRCh38
NC_000003.11:g.160021750T>A , CM000665.1:g.160021750T>A GRCh37
NC_000003.10:g.161504444T>A NCBI36
NG_022932.1:g.100571A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.1104A>T (IFT80) MANE Select NP_065851.1:p.Ile368=
ENST00000326448.12:c.1104A>T (IFT80) MANE Select ENSP00000312778.7:p.Ile368=
NM_001190241.1:c.693A>T (IFT80) NP_001177170.1:p.Ile231=
NM_001190241.2:c.693A>T (IFT80) NP_001177170.1:p.Ile231=
NM_001190242.1:c.693A>T (IFT80) NP_001177171.1:p.Ile231=
NM_001190242.2:c.693A>T (IFT80) NP_001177171.1:p.Ile231=
NM_020800.2:c.1104A>T (IFT80) NP_065851.1:p.Ile368=
NR_148401.1:n.1812A>T (TRIM59-IFT80)
NR_148402.1:n.3348A>T (TRIM59-IFT80)
NR_148403.1:n.3615A>T (TRIM59-IFT80)
ENST00000326448.11:c.1104A>T (IFT80) ENSP00000312778.7:p.Ile368=
ENST00000461213.1:n.535A>T (IFT80)
ENST00000472555.5:c.641A>T (IFT80)
ENST00000483325.1:c.147A>T (IFT80) ENSP00000417552.1:p.Ile49=
ENST00000483465.5:c.693A>T (IFT80) ENSP00000418196.1:p.Ile231=
ENST00000483754.1:c.1617A>T (TRIM59-IFT80) ENSP00000456272.1:p.Ile539=
ENST00000487943.5:n.2323A>T (IFT80)
ENST00000496589.5:c.693A>T (IFT80) ENSP00000420646.1:p.Ile231=