Canonical Allele Identifier: CA1579906

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27454019C>T , CM000664.2:g.27454019C>T	GRCh38
NC_000002.11:g.27676886C>T , CM000664.1:g.27676886C>T	GRCh37
NC_000002.10:g.27530390C>T	NCBI36
NG_034068.1:g.40793G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3674G>A MANE Select	NP_056477.1:p.Arg1225Gln
ENST00000260570.8:c.3674G>A MANE Select	ENSP00000260570.3:p.Arg1225Gln
NM_015662.2:c.3674G>A	NP_056477.1:p.Arg1225Gln
ENST00000260570.7:c.3674G>A	ENSP00000260570.3:p.Arg1225Gln
ENST00000443889.1:c.279G>A
ENST00000450564.1:c.116G>A	ENSP00000399017.1:p.Arg39Gln
ENST00000507184.5:n.3955G>A
ENST00000509128.5:c.69G>A
ENST00000674701.1:c.*3187G>A	ENSP00000502275.1:n.*3187G>A
ENST00000674824.1:c.*1880G>A	ENSP00000501824.1:n.*1880G>A
ENST00000674932.1:c.*4120G>A	ENSP00000501967.1:n.*4120G>A
ENST00000675410.1:c.*1545G>A	ENSP00000502030.1:n.*1545G>A
ENST00000675690.1:c.3608G>A	ENSP00000502283.1:p.Arg1203Gln
ENST00000676119.1:c.*2964G>A	ENSP00000501701.1:n.*2964G>A
XM_005264254.1:c.3608G>A	XP_005264311.1:p.Arg1203Gln
XM_006711986.2:c.3611G>A	XP_006712049.1:p.Arg1204Gln
XM_006711986.3:c.3611G>A	XP_006712049.1:p.Arg1204Gln
XM_006711987.1:c.3674G>A	XP_006712050.1:p.Arg1225Gln
XM_011532757.1:c.2993G>A	XP_011531059.1:p.Arg998Gln
XM_011532757.2:c.2993G>A	XP_011531059.1:p.Arg998Gln
XM_011532758.1:c.3674G>A	XP_011531060.1:p.Arg1225Gln
XM_011532759.1:c.2114G>A	XP_011531061.1:p.Arg705Gln
XM_011532759.2:c.2114G>A	XP_011531061.1:p.Arg705Gln
XM_011532760.1:c.1739G>A	XP_011531062.1:p.Arg580Gln
XM_011532760.2:c.1739G>A	XP_011531062.1:p.Arg580Gln
XM_017003790.1:c.3545G>A	XP_016859279.1:p.Arg1182Gln
XM_017003791.1:c.2993G>A	XP_016859280.1:p.Arg998Gln
XM_017003792.1:c.3674G>A	XP_016859281.1:p.Arg1225Gln
XM_017003793.1:c.1811G>A	XP_016859282.1:p.Arg604Gln
XM_017003794.1:c.1811G>A	XP_016859283.1:p.Arg604Gln
XM_017003795.1:c.1607G>A	XP_016859284.1:p.Arg536Gln
XR_001738698.1:n.3729G>A