Canonical Allele Identifier: CA2684983

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160277355G>A , CM000665.2:g.160277355G>A	GRCh38
NC_000003.11:g.159995143G>A , CM000665.1:g.159995143G>A	GRCh37
NC_000003.10:g.161477837G>A	NCBI36
NG_022932.1:g.127178C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.2050C>T (IFT80) MANE Select	NP_065851.1:p.Leu684Phe
ENST00000326448.12:c.2050C>T (IFT80) MANE Select	ENSP00000312778.7:p.Leu684Phe
NM_001190241.1:c.1639C>T (IFT80)	NP_001177170.1:p.Leu547Phe
NM_001190241.2:c.1639C>T (IFT80)	NP_001177170.1:p.Leu547Phe
NM_001190242.1:c.1639C>T (IFT80)	NP_001177171.1:p.Leu547Phe
NM_001190242.2:c.1639C>T (IFT80)	NP_001177171.1:p.Leu547Phe
NM_020800.2:c.2050C>T (IFT80)	NP_065851.1:p.Leu684Phe
NR_148401.1:n.2758C>T (TRIM59-IFT80)
NR_148402.1:n.4294C>T (TRIM59-IFT80)
NR_148403.1:n.4561C>T (TRIM59-IFT80)
ENST00000326448.11:c.2050C>T (IFT80)	ENSP00000312778.7:p.Leu684Phe
ENST00000463240.1:n.124C>T (IFT80)
ENST00000483465.5:c.1639C>T (IFT80)	ENSP00000418196.1:p.Leu547Phe
ENST00000483754.1:c.2563C>T (TRIM59-IFT80)	ENSP00000456272.1:p.Leu855Phe
ENST00000487943.5:n.3269C>T (IFT80)
ENST00000496589.5:c.1639C>T (IFT80)	ENSP00000420646.1:p.Leu547Phe
XR_924137.1:n.2945-3752G>A (C3orf80)
XR_924138.1:n.2900-12317G>A (C3orf80)