Canonical Allele Identifier: CA355193168

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160357577C>T , CM000665.2:g.160357577C>T	GRCh38
NC_000003.11:g.160075365C>T , CM000665.1:g.160075365C>T	GRCh37
NC_000003.10:g.161558059C>T	NCBI36
NG_022932.1:g.46956G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.551G>A (IFT80) MANE Select	NP_065851.1:p.Trp184Ter
ENST00000326448.12:c.551G>A (IFT80) MANE Select	ENSP00000312778.7:p.Trp184Ter
NM_001190241.1:c.140G>A (IFT80)	NP_001177170.1:p.Trp47Ter
NM_001190241.2:c.140G>A (IFT80)	NP_001177170.1:p.Trp47Ter
NM_001190242.1:c.140G>A (IFT80)	NP_001177171.1:p.Trp47Ter
NM_001190242.2:c.140G>A (IFT80)	NP_001177171.1:p.Trp47Ter
NM_020800.2:c.551G>A (IFT80)	NP_065851.1:p.Trp184Ter
NR_148401.1:n.1259G>A (TRIM59-IFT80)
NR_148402.1:n.2795G>A (TRIM59-IFT80)
NR_148403.1:n.3062G>A (TRIM59-IFT80)
ENST00000326448.11:c.551G>A (IFT80)	ENSP00000312778.7:p.Trp184Ter
ENST00000465537.5:c.140G>A (IFT80)	ENSP00000418602.1:p.Trp47Ter
ENST00000472773.5:n.565G>A (IFT80)
ENST00000475677.5:c.140G>A (IFT80)	ENSP00000419458.1:p.Trp47Ter
ENST00000478460.5:n.258G>A (IFT80)
ENST00000483465.5:c.140G>A (IFT80)	ENSP00000418196.1:p.Trp47Ter
ENST00000483754.1:c.1064G>A (TRIM59-IFT80)	ENSP00000456272.1:p.Trp355Ter
ENST00000484963.5:c.156G>A (IFT80)	ENSP00000420260.1:p.Val52=
ENST00000487943.5:n.1770G>A (IFT80)
ENST00000496589.5:c.140G>A (IFT80)	ENSP00000420646.1:p.Trp47Ter