Canonical Allele Identifier: CA346384891

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461806G>A , CM000664.2:g.27461806G>A	GRCh38
NC_000002.11:g.27684673G>A , CM000664.1:g.27684673G>A	GRCh37
NC_000002.10:g.27538177G>A	NCBI36
NG_034068.1:g.33006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2146C>T MANE Select	NP_056477.1:p.Gln716Ter
ENST00000260570.8:c.2146C>T MANE Select	ENSP00000260570.3:p.Gln716Ter
NM_015662.2:c.2146C>T	NP_056477.1:p.Gln716Ter
ENST00000260570.7:c.2146C>T	ENSP00000260570.3:p.Gln716Ter
ENST00000507184.5:n.2278C>T
ENST00000674701.1:c.*1319C>T	ENSP00000502275.1:n.*1319C>T
ENST00000674824.1:c.*161C>T	ENSP00000501824.1:n.*161C>T
ENST00000674932.1:c.*1743C>T	ENSP00000501967.1:n.*1743C>T
ENST00000675410.1:c.1465C>T	ENSP00000502030.1:p.Gln489Ter
ENST00000675690.1:c.2080C>T	ENSP00000502283.1:p.Gln694Ter
ENST00000676119.1:c.*1436C>T	ENSP00000501701.1:n.*1436C>T
XM_005264254.1:c.2080C>T	XP_005264311.1:p.Gln694Ter
XM_006711986.2:c.2083C>T	XP_006712049.1:p.Gln695Ter
XM_006711986.3:c.2083C>T	XP_006712049.1:p.Gln695Ter
XM_006711987.1:c.2146C>T	XP_006712050.1:p.Gln716Ter
XM_011532757.1:c.1465C>T	XP_011531059.1:p.Gln489Ter
XM_011532757.2:c.1465C>T	XP_011531059.1:p.Gln489Ter
XM_011532758.1:c.2146C>T	XP_011531060.1:p.Gln716Ter
XM_011532759.1:c.586C>T	XP_011531061.1:p.Gln196Ter
XM_011532759.2:c.586C>T	XP_011531061.1:p.Gln196Ter
XM_011532760.1:c.211C>T	XP_011531062.1:p.Gln71Ter
XM_011532760.2:c.211C>T	XP_011531062.1:p.Gln71Ter
XM_017003790.1:c.2017C>T	XP_016859279.1:p.Gln673Ter
XM_017003791.1:c.1465C>T	XP_016859280.1:p.Gln489Ter
XM_017003792.1:c.2146C>T	XP_016859281.1:p.Gln716Ter
XM_017003793.1:c.283C>T	XP_016859282.1:p.Gln95Ter
XM_017003794.1:c.283C>T	XP_016859283.1:p.Gln95Ter
XM_017003795.1:c.79C>T	XP_016859284.1:p.Gln27Ter
XR_001738698.1:n.2201C>T