Canonical Allele Identifier: CA86564830

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160356089G>C , CM000665.2:g.160356089G>C	GRCh38
NC_000003.11:g.160073877G>C , CM000665.1:g.160073877G>C	GRCh37
NC_000003.10:g.161556571G>C	NCBI36
NG_022932.1:g.48444C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.701C>G (IFT80) MANE Select	NP_065851.1:p.Ser234Ter
ENST00000326448.12:c.701C>G (IFT80) MANE Select	ENSP00000312778.7:p.Ser234Ter
NM_001190241.1:c.290C>G (IFT80)	NP_001177170.1:p.Ser97Ter
NM_001190241.2:c.290C>G (IFT80)	NP_001177170.1:p.Ser97Ter
NM_001190242.1:c.290C>G (IFT80)	NP_001177171.1:p.Ser97Ter
NM_001190242.2:c.290C>G (IFT80)	NP_001177171.1:p.Ser97Ter
NM_020800.2:c.701C>G (IFT80)	NP_065851.1:p.Ser234Ter
NR_148401.1:n.1409C>G (TRIM59-IFT80)
NR_148402.1:n.2945C>G (TRIM59-IFT80)
NR_148403.1:n.3212C>G (TRIM59-IFT80)
ENST00000326448.11:c.701C>G (IFT80)	ENSP00000312778.7:p.Ser234Ter
ENST00000465537.5:c.290C>G (IFT80)	ENSP00000418602.1:p.Ser97Ter
ENST00000472555.5:c.73C>G (IFT80)
ENST00000478460.5:n.408C>G (IFT80)
ENST00000483465.5:c.290C>G (IFT80)	ENSP00000418196.1:p.Ser97Ter
ENST00000483754.1:c.1214C>G (TRIM59-IFT80)	ENSP00000456272.1:p.Ser405Ter
ENST00000484963.5:c.306C>G (IFT80)	ENSP00000420260.1:n.306C>G
ENST00000487943.5:n.1920C>G (IFT80)
ENST00000496589.5:c.290C>G (IFT80)	ENSP00000420646.1:p.Ser97Ter