Canonical Allele Identifier: CA2685291

Gene: IFT80 TRIM59-IFT80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160307782C>A , CM000665.2:g.160307782C>A	GRCh38
NC_000003.11:g.160025570C>A , CM000665.1:g.160025570C>A	GRCh37
NC_000003.10:g.161508264C>A	NCBI36
NG_022932.1:g.96751G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.958-1G>T (IFT80) MANE Select	NP_065851.1:n.958-1G>T
ENST00000326448.12:c.958-1G>T (IFT80) MANE Select	ENSP00000312778.7:n.958-1G>T
NM_001190241.1:c.547-1G>T (IFT80)	NP_001177170.1:n.547-1G>T
NM_001190241.2:c.547-1G>T (IFT80)	NP_001177170.1:n.547-1G>T
NM_001190242.1:c.547-1G>T (IFT80)	NP_001177171.1:n.547-1G>T
NM_001190242.2:c.547-1G>T (IFT80)	NP_001177171.1:n.547-1G>T
NM_020800.2:c.958-1G>T (IFT80)	NP_065851.1:n.958-1G>T
NR_148401.1:n.1666-1G>T (TRIM59-IFT80)
NR_148402.1:n.3202-1G>T (TRIM59-IFT80)
NR_148403.1:n.3469-1G>T (TRIM59-IFT80)
ENST00000326448.11:c.958-1G>T (IFT80)	ENSP00000312778.7:n.958-1G>T
ENST00000461213.1:n.389-1G>T (IFT80)
ENST00000472555.5:c.495-1G>T (IFT80)
ENST00000483465.5:c.547-1G>T (IFT80)	ENSP00000418196.1:n.547-1G>T
ENST00000483754.1:c.1471-1G>T (TRIM59-IFT80)	ENSP00000456272.1:n.1471-1G>T
ENST00000487943.5:n.2177-1G>T (IFT80)
ENST00000496589.5:c.547-1G>T (IFT80)	ENSP00000420646.1:n.547-1G>T