Canonical Allele Identifier: CA355192453

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• MyVariant Identifiers: chr3:g.160000379A>C (hg19) ; chr3:g.160282591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282591A>C , CM000665.2:g.160282591A>C	GRCh38
NC_000003.11:g.160000379A>C , CM000665.1:g.160000379A>C	GRCh37
NC_000003.10:g.161483073A>C	NCBI36
NG_022932.1:g.121942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1403T>G (IFT80) MANE Select	ENSP00000312778.7:p.Leu468Arg
ENST00000326448.11:c.1403T>G (IFT80)	ENSP00000312778.7:p.Leu468Arg
ENST00000483465.5:c.992T>G (IFT80)	ENSP00000418196.1:p.Leu331Arg
ENST00000483754.1:c.1916T>G (TRIM59-IFT80)	ENSP00000456272.1:p.Leu639Arg
ENST00000487943.5:n.2622T>G (IFT80)
ENST00000496589.5:c.992T>G (IFT80)	ENSP00000420646.1:p.Leu331Arg
NM_001190241.1:c.992T>G (IFT80)	NP_001177170.1:p.Leu331Arg
NM_001190242.1:c.992T>G (IFT80)	NP_001177171.1:p.Leu331Arg
NM_020800.2:c.1403T>G (IFT80)	NP_065851.1:p.Leu468Arg
XR_924138.1:n.2900-7081A>C (C3orf80)
NR_148401.1:n.2111T>G (TRIM59-IFT80)
NR_148402.1:n.3647T>G (TRIM59-IFT80)
NR_148403.1:n.3914T>G (TRIM59-IFT80)
NM_020800.3:c.1403T>G (IFT80) MANE Select	NP_065851.1:p.Leu468Arg
NM_001190241.2:c.992T>G (IFT80)	NP_001177170.1:p.Leu331Arg
NM_001190242.2:c.992T>G (IFT80)	NP_001177171.1:p.Leu331Arg