Canonical Allele Identifier: CA1580329

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461346G>A , CM000664.2:g.27461346G>A	GRCh38
NC_000002.11:g.27684213G>A , CM000664.1:g.27684213G>A	GRCh37
NC_000002.10:g.27537717G>A	NCBI36
NG_034068.1:g.33466C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2365C>T MANE Select	NP_056477.1:p.Arg789Ter
ENST00000260570.8:c.2365C>T MANE Select	ENSP00000260570.3:p.Arg789Ter
NM_015662.2:c.2365C>T	NP_056477.1:p.Arg789Ter
ENST00000260570.7:c.2365C>T	ENSP00000260570.3:p.Arg789Ter
ENST00000507184.5:n.2497C>T
ENST00000674701.1:c.*1538C>T	ENSP00000502275.1:n.*1538C>T
ENST00000674824.1:c.*380C>T	ENSP00000501824.1:n.*380C>T
ENST00000674932.1:c.*1962C>T	ENSP00000501967.1:n.*1962C>T
ENST00000675410.1:c.1684C>T	ENSP00000502030.1:p.Arg562Ter
ENST00000675690.1:c.2299C>T	ENSP00000502283.1:p.Arg767Ter
ENST00000676119.1:c.*1655C>T	ENSP00000501701.1:n.*1655C>T
XM_005264254.1:c.2299C>T	XP_005264311.1:p.Arg767Ter
XM_006711986.2:c.2302C>T	XP_006712049.1:p.Arg768Ter
XM_006711986.3:c.2302C>T	XP_006712049.1:p.Arg768Ter
XM_006711987.1:c.2365C>T	XP_006712050.1:p.Arg789Ter
XM_011532757.1:c.1684C>T	XP_011531059.1:p.Arg562Ter
XM_011532757.2:c.1684C>T	XP_011531059.1:p.Arg562Ter
XM_011532758.1:c.2365C>T	XP_011531060.1:p.Arg789Ter
XM_011532759.1:c.805C>T	XP_011531061.1:p.Arg269Ter
XM_011532759.2:c.805C>T	XP_011531061.1:p.Arg269Ter
XM_011532760.1:c.430C>T	XP_011531062.1:p.Arg144Ter
XM_011532760.2:c.430C>T	XP_011531062.1:p.Arg144Ter
XM_017003790.1:c.2236C>T	XP_016859279.1:p.Arg746Ter
XM_017003791.1:c.1684C>T	XP_016859280.1:p.Arg562Ter
XM_017003792.1:c.2365C>T	XP_016859281.1:p.Arg789Ter
XM_017003793.1:c.502C>T	XP_016859282.1:p.Arg168Ter
XM_017003794.1:c.502C>T	XP_016859283.1:p.Arg168Ter
XM_017003795.1:c.298C>T	XP_016859284.1:p.Arg100Ter
XR_001738698.1:n.2420C>T