Canonical Allele Identifier: CA1579546

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447562C>T , CM000664.2:g.27447562C>T	GRCh38
NC_000002.11:g.27670429C>T , CM000664.1:g.27670429C>T	GRCh37
NC_000002.10:g.27523933C>T	NCBI36
NG_034068.1:g.47250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4612G>A MANE Select	NP_056477.1:p.Ala1538Thr
ENST00000260570.8:c.4612G>A MANE Select	ENSP00000260570.3:p.Ala1538Thr
NM_015662.2:c.4612G>A	NP_056477.1:p.Ala1538Thr
ENST00000260570.7:c.4612G>A	ENSP00000260570.3:p.Ala1538Thr
ENST00000420854.1:c.184G>A	ENSP00000398633.1:p.Ala62Thr
ENST00000480892.1:n.15G>A
ENST00000507184.5:n.4893G>A
ENST00000509128.5:c.1030G>A
ENST00000674594.1:n.1224G>A
ENST00000674701.1:c.*4125G>A	ENSP00000502275.1:n.*4125G>A
ENST00000674824.1:c.*3060G>A	ENSP00000501824.1:n.*3060G>A
ENST00000674932.1:c.*5058G>A	ENSP00000501967.1:n.*5058G>A
ENST00000675410.1:c.*2601G>A	ENSP00000502030.1:n.*2601G>A
ENST00000675690.1:c.4546G>A	ENSP00000502283.1:p.Ala1516Thr
ENST00000676119.1:c.*3838G>A	ENSP00000501701.1:n.*3838G>A
XM_005264254.1:c.4546G>A	XP_005264311.1:p.Ala1516Thr
XM_006711986.2:c.4549G>A	XP_006712049.1:p.Ala1517Thr
XM_006711986.3:c.4549G>A	XP_006712049.1:p.Ala1517Thr
XM_006711987.1:c.4612G>A	XP_006712050.1:p.Ala1538Thr
XM_011532757.1:c.3931G>A	XP_011531059.1:p.Ala1311Thr
XM_011532757.2:c.3931G>A	XP_011531059.1:p.Ala1311Thr
XM_011532759.1:c.3052G>A	XP_011531061.1:p.Ala1018Thr
XM_011532759.2:c.3052G>A	XP_011531061.1:p.Ala1018Thr
XM_011532760.1:c.2677G>A	XP_011531062.1:p.Ala893Thr
XM_011532760.2:c.2677G>A	XP_011531062.1:p.Ala893Thr
XM_017003790.1:c.4483G>A	XP_016859279.1:p.Ala1495Thr
XM_017003791.1:c.3931G>A	XP_016859280.1:p.Ala1311Thr
XM_017003793.1:c.2749G>A	XP_016859282.1:p.Ala917Thr
XM_017003794.1:c.2749G>A	XP_016859283.1:p.Ala917Thr
XM_017003795.1:c.2545G>A	XP_016859284.1:p.Ala849Thr