ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160280770G>A , CM000665.2:g.160280770G>A | GRCh38 |
| NC_000003.11:g.159998558G>A , CM000665.1:g.159998558G>A | GRCh37 |
| NC_000003.10:g.161481252G>A | NCBI36 |
| NG_022932.1:g.123763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1561C>T (IFT80) MANE Select | ENSP00000312778.7:p.Leu521Phe | |
| ENST00000326448.11:c.1561C>T (IFT80) | ENSP00000312778.7:p.Leu521Phe | |
| ENST00000483465.5:c.1150C>T (IFT80) | ENSP00000418196.1:p.Leu384Phe | |
| ENST00000483754.1:c.2074C>T (TRIM59-IFT80) | ENSP00000456272.1:p.Leu692Phe | |
| ENST00000487943.5:n.2780C>T (IFT80) | ||
| ENST00000496589.5:c.1150C>T (IFT80) | ENSP00000420646.1:p.Leu384Phe | |
| NM_001190241.1:c.1150C>T (IFT80) | NP_001177170.1:p.Leu384Phe | |
| NM_001190242.1:c.1150C>T (IFT80) | NP_001177171.1:p.Leu384Phe | |
| NM_020800.2:c.1561C>T (IFT80) | NP_065851.1:p.Leu521Phe | |
| XR_924137.1:n.2945-337G>A (C3orf80) | ||
| XR_924138.1:n.2900-8902G>A (C3orf80) | ||
| NR_148401.1:n.2269C>T (TRIM59-IFT80) | ||
| NR_148402.1:n.3805C>T (TRIM59-IFT80) | ||
| NR_148403.1:n.4072C>T (TRIM59-IFT80) | ||
| NM_020800.3:c.1561C>T (IFT80) MANE Select | NP_065851.1:p.Leu521Phe | |
| NM_001190241.2:c.1150C>T (IFT80) | NP_001177170.1:p.Leu384Phe | |
| NM_001190242.2:c.1150C>T (IFT80) | NP_001177171.1:p.Leu384Phe |