Canonical Allele Identifier: CA355191992

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• MyVariant Identifiers: chr3:g.160000284C>T (hg19) ; chr3:g.160282496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282496C>T , CM000665.2:g.160282496C>T	GRCh38
NC_000003.11:g.160000284C>T , CM000665.1:g.160000284C>T	GRCh37
NC_000003.10:g.161482978C>T	NCBI36
NG_022932.1:g.122037G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326448.12:c.1498G>A (IFT80) MANE Select	ENSP00000312778.7:p.Glu500Lys
ENST00000326448.11:c.1498G>A (IFT80)	ENSP00000312778.7:p.Glu500Lys
ENST00000483465.5:c.1087G>A (IFT80)	ENSP00000418196.1:p.Glu363Lys
ENST00000483754.1:c.2011G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Glu671Lys
ENST00000487943.5:n.2717G>A (IFT80)
ENST00000496589.5:c.1087G>A (IFT80)	ENSP00000420646.1:p.Glu363Lys
NM_001190241.1:c.1087G>A (IFT80)	NP_001177170.1:p.Glu363Lys
NM_001190242.1:c.1087G>A (IFT80)	NP_001177171.1:p.Glu363Lys
NM_020800.2:c.1498G>A (IFT80)	NP_065851.1:p.Glu500Lys
XR_924138.1:n.2900-7176C>T (C3orf80)
NR_148401.1:n.2206G>A (TRIM59-IFT80)
NR_148402.1:n.3742G>A (TRIM59-IFT80)
NR_148403.1:n.4009G>A (TRIM59-IFT80)
NM_020800.3:c.1498G>A (IFT80) MANE Select	NP_065851.1:p.Glu500Lys
NM_001190241.2:c.1087G>A (IFT80)	NP_001177170.1:p.Glu363Lys
NM_001190242.2:c.1087G>A (IFT80)	NP_001177171.1:p.Glu363Lys