Canonical Allele Identifier: CA2685327

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160319870G>A , CM000665.2:g.160319870G>A	GRCh38
NC_000003.11:g.160037658G>A , CM000665.1:g.160037658G>A	GRCh37
NC_000003.10:g.161520352G>A	NCBI36
NG_022932.1:g.84663C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.847C>T (IFT80) MANE Select	NP_065851.1:p.Gln283Ter
ENST00000326448.12:c.847C>T (IFT80) MANE Select	ENSP00000312778.7:p.Gln283Ter
NM_001190241.1:c.436C>T (IFT80)	NP_001177170.1:p.Gln146Ter
NM_001190241.2:c.436C>T (IFT80)	NP_001177170.1:p.Gln146Ter
NM_001190242.1:c.436C>T (IFT80)	NP_001177171.1:p.Gln146Ter
NM_001190242.2:c.436C>T (IFT80)	NP_001177171.1:p.Gln146Ter
NM_020800.2:c.847C>T (IFT80)	NP_065851.1:p.Gln283Ter
NR_148401.1:n.1555C>T (TRIM59-IFT80)
NR_148402.1:n.3091C>T (TRIM59-IFT80)
NR_148403.1:n.3358C>T (TRIM59-IFT80)
ENST00000326448.11:c.847C>T (IFT80)	ENSP00000312778.7:p.Gln283Ter
ENST00000461213.1:n.278C>T (IFT80)
ENST00000472555.5:c.384C>T (IFT80)
ENST00000478460.5:n.554C>T (IFT80)
ENST00000483465.5:c.436C>T (IFT80)	ENSP00000418196.1:p.Gln146Ter
ENST00000483754.1:c.1360C>T (TRIM59-IFT80)	ENSP00000456272.1:p.Gln454Ter
ENST00000487943.5:n.2066C>T (IFT80)
ENST00000496589.5:c.436C>T (IFT80)	ENSP00000420646.1:p.Gln146Ter