Canonical Allele Identifier: CA1579633

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27448980G>A , CM000664.2:g.27448980G>A	GRCh38
NC_000002.11:g.27671847G>A , CM000664.1:g.27671847G>A	GRCh37
NC_000002.10:g.27525351G>A	NCBI36
NG_034068.1:g.45832C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4363C>T MANE Select	NP_056477.1:p.Arg1455Trp
ENST00000260570.8:c.4363C>T MANE Select	ENSP00000260570.3:p.Arg1455Trp
NM_015662.2:c.4363C>T	NP_056477.1:p.Arg1455Trp
ENST00000260570.7:c.4363C>T	ENSP00000260570.3:p.Arg1455Trp
ENST00000450564.1:c.695C>T	ENSP00000399017.1:n.695C>T
ENST00000507184.5:n.4644C>T
ENST00000509128.5:c.758C>T
ENST00000674594.1:n.975C>T
ENST00000674701.1:c.*3876C>T	ENSP00000502275.1:n.*3876C>T
ENST00000674824.1:c.*2811C>T	ENSP00000501824.1:n.*2811C>T
ENST00000674932.1:c.*4809C>T	ENSP00000501967.1:n.*4809C>T
ENST00000675410.1:c.*2352C>T	ENSP00000502030.1:n.*2352C>T
ENST00000675690.1:c.4297C>T	ENSP00000502283.1:p.Arg1433Trp
ENST00000676119.1:c.*3589C>T	ENSP00000501701.1:n.*3589C>T
XM_005264254.1:c.4297C>T	XP_005264311.1:p.Arg1433Trp
XM_006711986.2:c.4300C>T	XP_006712049.1:p.Arg1434Trp
XM_006711986.3:c.4300C>T	XP_006712049.1:p.Arg1434Trp
XM_006711987.1:c.4363C>T	XP_006712050.1:p.Arg1455Trp
XM_011532757.1:c.3682C>T	XP_011531059.1:p.Arg1228Trp
XM_011532757.2:c.3682C>T	XP_011531059.1:p.Arg1228Trp
XM_011532759.1:c.2803C>T	XP_011531061.1:p.Arg935Trp
XM_011532759.2:c.2803C>T	XP_011531061.1:p.Arg935Trp
XM_011532760.1:c.2428C>T	XP_011531062.1:p.Arg810Trp
XM_011532760.2:c.2428C>T	XP_011531062.1:p.Arg810Trp
XM_017003790.1:c.4234C>T	XP_016859279.1:p.Arg1412Trp
XM_017003791.1:c.3682C>T	XP_016859280.1:p.Arg1228Trp
XM_017003793.1:c.2500C>T	XP_016859282.1:p.Arg834Trp
XM_017003794.1:c.2500C>T	XP_016859283.1:p.Arg834Trp
XM_017003795.1:c.2296C>T	XP_016859284.1:p.Arg766Trp