Canonical Allele Identifier: CA2577947993

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160377403C>G , CM000665.2:g.160377403C>G	GRCh38
NC_000003.11:g.160095191C>G , CM000665.1:g.160095191C>G	GRCh37
NC_000003.10:g.161577885C>G	NCBI36
NG_022932.1:g.27130G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326448.12:c.370+27G>C (IFT80) MANE Select	ENSP00000312778.7:n.370+27G>C
ENST00000326448.11:c.370+27G>C (IFT80)	ENSP00000312778.7:n.370+27G>C
ENST00000465537.5:c.-42+27G>C (IFT80)	ENSP00000418602.1:n.-42+27G>C
ENST00000468218.5:c.-42+27G>C (IFT80)	ENSP00000417057.1:n.-42+27G>C
ENST00000472773.5:n.494+27G>C (IFT80)
ENST00000475677.5:c.-42+27G>C (IFT80)	ENSP00000419458.1:n.-42+27G>C
ENST00000477495.5:n.516+27G>C (IFT80)
ENST00000478370.5:c.-42+27G>C (IFT80)	ENSP00000420758.1:n.-42+27G>C
ENST00000478460.5:n.187+27G>C (IFT80)
ENST00000482317.5:c.*107+27G>C (IFT80)	ENSP00000418497.1:n.*107+27G>C
ENST00000483465.5:c.-42+27G>C (IFT80)	ENSP00000418196.1:n.-42+27G>C
ENST00000483754.1:c.953-11251G>C (TRIM59-IFT80)	ENSP00000456272.1:n.953-11251G>C
ENST00000484963.5:c.25+27G>C (IFT80)	ENSP00000420260.1:n.25+27G>C
ENST00000486856.5:c.-42+27G>C (IFT80)	ENSP00000417861.1:n.-42+27G>C
ENST00000487943.5:n.1699+27G>C (IFT80)
ENST00000496589.5:c.-42+27G>C (IFT80)	ENSP00000420646.1:n.-42+27G>C
ENST00000498409.5:c.370+27G>C (IFT80)	ENSP00000420001.1:n.370+27G>C
NM_001190241.1:c.-42+27G>C (IFT80)	NP_001177170.1:n.-42+27G>C
NM_001190242.1:c.-42+27G>C (IFT80)	NP_001177171.1:n.-42+27G>C
NM_020800.2:c.370+27G>C (IFT80)	NP_065851.1:n.370+27G>C
NR_148401.1:n.1148-11251G>C (TRIM59-IFT80)
NR_148402.1:n.2614+27G>C (TRIM59-IFT80)
NR_148403.1:n.2881+27G>C (TRIM59-IFT80)
NM_020800.3:c.370+27G>C (IFT80) MANE Select	NP_065851.1:n.370+27G>C
NM_001190241.2:c.-42+27G>C (IFT80)	NP_001177170.1:n.-42+27G>C
NM_001190242.2:c.-42+27G>C (IFT80)	NP_001177171.1:n.-42+27G>C