Canonical Allele Identifier: CA1580379

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461794G>A , CM000664.2:g.27461794G>A	GRCh38
NC_000002.11:g.27684661G>A , CM000664.1:g.27684661G>A	GRCh37
NC_000002.10:g.27538165G>A	NCBI36
NG_034068.1:g.33018C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2158C>T MANE Select	NP_056477.1:p.Arg720Cys
ENST00000260570.8:c.2158C>T MANE Select	ENSP00000260570.3:p.Arg720Cys
NM_015662.2:c.2158C>T	NP_056477.1:p.Arg720Cys
ENST00000260570.7:c.2158C>T	ENSP00000260570.3:p.Arg720Cys
ENST00000507184.5:n.2290C>T
ENST00000674701.1:c.*1331C>T	ENSP00000502275.1:n.*1331C>T
ENST00000674824.1:c.*173C>T	ENSP00000501824.1:n.*173C>T
ENST00000674932.1:c.*1755C>T	ENSP00000501967.1:n.*1755C>T
ENST00000675410.1:c.1477C>T	ENSP00000502030.1:p.Arg493Cys
ENST00000675690.1:c.2092C>T	ENSP00000502283.1:p.Arg698Cys
ENST00000676119.1:c.*1448C>T	ENSP00000501701.1:n.*1448C>T
XM_005264254.1:c.2092C>T	XP_005264311.1:p.Arg698Cys
XM_006711986.2:c.2095C>T	XP_006712049.1:p.Arg699Cys
XM_006711986.3:c.2095C>T	XP_006712049.1:p.Arg699Cys
XM_006711987.1:c.2158C>T	XP_006712050.1:p.Arg720Cys
XM_011532757.1:c.1477C>T	XP_011531059.1:p.Arg493Cys
XM_011532757.2:c.1477C>T	XP_011531059.1:p.Arg493Cys
XM_011532758.1:c.2158C>T	XP_011531060.1:p.Arg720Cys
XM_011532759.1:c.598C>T	XP_011531061.1:p.Arg200Cys
XM_011532759.2:c.598C>T	XP_011531061.1:p.Arg200Cys
XM_011532760.1:c.223C>T	XP_011531062.1:p.Arg75Cys
XM_011532760.2:c.223C>T	XP_011531062.1:p.Arg75Cys
XM_017003790.1:c.2029C>T	XP_016859279.1:p.Arg677Cys
XM_017003791.1:c.1477C>T	XP_016859280.1:p.Arg493Cys
XM_017003792.1:c.2158C>T	XP_016859281.1:p.Arg720Cys
XM_017003793.1:c.295C>T	XP_016859282.1:p.Arg99Cys
XM_017003794.1:c.295C>T	XP_016859283.1:p.Arg99Cys
XM_017003795.1:c.91C>T	XP_016859284.1:p.Arg31Cys
XR_001738698.1:n.2213C>T