Canonical Allele Identifier: CA2685255
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Linked Data

ClinVar Variation Id: 406217
dbSNP Id: rs140202230

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160303973T>C , CM000665.2:g.160303973T>C GRCh38
NC_000003.11:g.160021761T>C , CM000665.1:g.160021761T>C GRCh37
NC_000003.10:g.161504455T>C NCBI36
NG_022932.1:g.100560A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.1093A>G (IFT80) MANE Select ENSP00000312778.7:p.Thr365Ala
ENST00000326448.11:c.1093A>G (IFT80) ENSP00000312778.7:p.Thr365Ala
ENST00000461213.1:n.524A>G (IFT80)
ENST00000472555.5:c.630A>G (IFT80)
ENST00000483325.1:c.136A>G (IFT80) ENSP00000417552.1:p.Thr46Ala
ENST00000483465.5:c.682A>G (IFT80) ENSP00000418196.1:p.Thr228Ala
ENST00000483754.1:c.1606A>G (TRIM59-IFT80) ENSP00000456272.1:p.Thr536Ala
ENST00000487943.5:n.2312A>G (IFT80)
ENST00000496589.5:c.682A>G (IFT80) ENSP00000420646.1:p.Thr228Ala
NM_001190241.1:c.682A>G (IFT80) NP_001177170.1:p.Thr228Ala
NM_001190242.1:c.682A>G (IFT80) NP_001177171.1:p.Thr228Ala
NM_020800.2:c.1093A>G (IFT80) NP_065851.1:p.Thr365Ala
NR_148401.1:n.1801A>G (TRIM59-IFT80)
NR_148402.1:n.3337A>G (TRIM59-IFT80)
NR_148403.1:n.3604A>G (TRIM59-IFT80)
NM_020800.3:c.1093A>G (IFT80) MANE Select NP_065851.1:p.Thr365Ala
NM_001190241.2:c.682A>G (IFT80) NP_001177170.1:p.Thr228Ala
NM_001190242.2:c.682A>G (IFT80) NP_001177171.1:p.Thr228Ala