Canonical Allele Identifier: CA2685278

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160307662C>T , CM000665.2:g.160307662C>T	GRCh38
NC_000003.11:g.160025450C>T , CM000665.1:g.160025450C>T	GRCh37
NC_000003.10:g.161508144C>T	NCBI36
NG_022932.1:g.96871G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.1076+1G>A (IFT80) MANE Select	NP_065851.1:n.1076+1G>A
ENST00000326448.12:c.1076+1G>A (IFT80) MANE Select	ENSP00000312778.7:n.1076+1G>A
NM_001190241.1:c.665+1G>A (IFT80)	NP_001177170.1:n.665+1G>A
NM_001190241.2:c.665+1G>A (IFT80)	NP_001177170.1:n.665+1G>A
NM_001190242.1:c.665+1G>A (IFT80)	NP_001177171.1:n.665+1G>A
NM_001190242.2:c.665+1G>A (IFT80)	NP_001177171.1:n.665+1G>A
NM_020800.2:c.1076+1G>A (IFT80)	NP_065851.1:n.1076+1G>A
NR_148401.1:n.1784+1G>A (TRIM59-IFT80)
NR_148402.1:n.3320+1G>A (TRIM59-IFT80)
NR_148403.1:n.3587+1G>A (TRIM59-IFT80)
ENST00000326448.11:c.1076+1G>A (IFT80)	ENSP00000312778.7:n.1076+1G>A
ENST00000461213.1:n.507+1G>A (IFT80)
ENST00000472555.5:c.613+1G>A (IFT80)
ENST00000483325.1:c.119+1G>A (IFT80)	ENSP00000417552.1:n.119+1G>A
ENST00000483465.5:c.665+1G>A (IFT80)	ENSP00000418196.1:n.665+1G>A
ENST00000483754.1:c.1589+1G>A (TRIM59-IFT80)	ENSP00000456272.1:n.1589+1G>A
ENST00000487943.5:n.2295+1G>A (IFT80)
ENST00000496589.5:c.665+1G>A (IFT80)	ENSP00000420646.1:n.665+1G>A