Canonical Allele Identifier: CA355250020

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160268512G>C , CM000665.2:g.160268512G>C	GRCh38
NC_000003.11:g.159986300G>C , CM000665.1:g.159986300G>C	GRCh37
NC_000003.10:g.161468994G>C	NCBI36
NG_022932.1:g.136021C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020800.3:c.2124C>G (IFT80) MANE Select	NP_065851.1:p.Tyr708Ter
ENST00000326448.12:c.2124C>G (IFT80) MANE Select	ENSP00000312778.7:p.Tyr708Ter
NM_001190241.1:c.1713C>G (IFT80)	NP_001177170.1:p.Tyr571Ter
NM_001190241.2:c.1713C>G (IFT80)	NP_001177170.1:p.Tyr571Ter
NM_001190242.1:c.1713C>G (IFT80)	NP_001177171.1:p.Tyr571Ter
NM_001190242.2:c.1713C>G (IFT80)	NP_001177171.1:p.Tyr571Ter
NM_020800.2:c.2124C>G (IFT80)	NP_065851.1:p.Tyr708Ter
NR_148401.1:n.2832C>G (TRIM59-IFT80)
NR_148402.1:n.4368C>G (TRIM59-IFT80)
NR_148403.1:n.4635C>G (TRIM59-IFT80)
ENST00000326448.11:c.2124C>G (IFT80)	ENSP00000312778.7:p.Tyr708Ter
ENST00000463240.1:n.272C>G (IFT80)
ENST00000478278.1:n.250C>G (IFT80)
ENST00000483465.5:c.1713C>G (IFT80)	ENSP00000418196.1:p.Tyr571Ter
ENST00000483754.1:c.2637C>G (TRIM59-IFT80)	ENSP00000456272.1:p.Tyr879Ter
ENST00000487943.5:n.3343C>G (IFT80)
ENST00000496589.5:c.1713C>G (IFT80)	ENSP00000420646.1:p.Tyr571Ter
XR_924137.1:n.2944+7598G>C (C3orf80)
XR_924138.1:n.2900-21160G>C (C3orf80)