Canonical Allele Identifier: CA1580580

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27470992C>T , CM000664.2:g.27470992C>T	GRCh38
NC_000002.11:g.27693859C>T , CM000664.1:g.27693859C>T	GRCh37
NC_000002.10:g.27547363C>T	NCBI36
NG_034068.1:g.23820G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1628G>A MANE Select	NP_056477.1:p.Arg543Gln
ENST00000260570.8:c.1628G>A MANE Select	ENSP00000260570.3:p.Arg543Gln
NM_015662.2:c.1628G>A	NP_056477.1:p.Arg543Gln
ENST00000260570.7:c.1628G>A	ENSP00000260570.3:p.Arg543Gln
ENST00000463613.1:n.149G>A
ENST00000507184.5:n.1760G>A
ENST00000511842.5:n.1653G>A
ENST00000674701.1:c.*1046G>A	ENSP00000502275.1:n.*1046G>A
ENST00000674824.1:c.1499G>A	ENSP00000501824.1:p.Arg500Gln
ENST00000674932.1:c.*1225G>A	ENSP00000501967.1:n.*1225G>A
ENST00000675410.1:c.947G>A	ENSP00000502030.1:p.Arg316Gln
ENST00000675618.1:n.2198G>A
ENST00000675690.1:c.1562G>A	ENSP00000502283.1:p.Arg521Gln
ENST00000675729.1:c.*1191G>A	ENSP00000502319.1:n.*1191G>A
ENST00000675826.1:n.1234G>A
ENST00000675963.1:c.*1260G>A	ENSP00000502708.1:n.*1260G>A
ENST00000676101.1:n.788G>A
ENST00000676119.1:c.*918G>A	ENSP00000501701.1:n.*918G>A
XM_005264254.1:c.1562G>A	XP_005264311.1:p.Arg521Gln
XM_006711986.2:c.1565G>A	XP_006712049.1:p.Arg522Gln
XM_006711986.3:c.1565G>A	XP_006712049.1:p.Arg522Gln
XM_006711987.1:c.1628G>A	XP_006712050.1:p.Arg543Gln
XM_011532757.1:c.947G>A	XP_011531059.1:p.Arg316Gln
XM_011532757.2:c.947G>A	XP_011531059.1:p.Arg316Gln
XM_011532758.1:c.1628G>A	XP_011531060.1:p.Arg543Gln
XM_011532759.1:c.68G>A	XP_011531061.1:p.Arg23Gln
XM_011532759.2:c.68G>A	XP_011531061.1:p.Arg23Gln
XM_017003790.1:c.1499G>A	XP_016859279.1:p.Arg500Gln
XM_017003791.1:c.947G>A	XP_016859280.1:p.Arg316Gln
XM_017003792.1:c.1628G>A	XP_016859281.1:p.Arg543Gln
XM_017003793.1:c.74+1258G>A	XP_016859282.1:n.74+1258G>A
XM_017003794.1:c.74+1258G>A	XP_016859283.1:n.74+1258G>A
XM_017003795.1:c.-195G>A	XP_016859284.1:n.-195G>A
XR_001738698.1:n.1683G>A