Canonical Allele Identifier: CA346416668

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447581G>T , CM000664.2:g.27447581G>T	GRCh38
NC_000002.11:g.27670448G>T , CM000664.1:g.27670448G>T	GRCh37
NC_000002.10:g.27523952G>T	NCBI36
NG_034068.1:g.47231C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4593C>A MANE Select	NP_056477.1:p.Phe1531Leu
ENST00000260570.8:c.4593C>A MANE Select	ENSP00000260570.3:p.Phe1531Leu
NM_015662.2:c.4593C>A	NP_056477.1:p.Phe1531Leu
ENST00000260570.7:c.4593C>A	ENSP00000260570.3:p.Phe1531Leu
ENST00000420854.1:c.165C>A	ENSP00000398633.1:p.Phe55Leu
ENST00000507184.5:n.4874C>A
ENST00000509128.5:c.1011C>A
ENST00000674594.1:n.1205C>A
ENST00000674701.1:c.*4106C>A	ENSP00000502275.1:n.*4106C>A
ENST00000674824.1:c.*3041C>A	ENSP00000501824.1:n.*3041C>A
ENST00000674932.1:c.*5039C>A	ENSP00000501967.1:n.*5039C>A
ENST00000675410.1:c.*2582C>A	ENSP00000502030.1:n.*2582C>A
ENST00000675690.1:c.4527C>A	ENSP00000502283.1:p.Phe1509Leu
ENST00000676119.1:c.*3819C>A	ENSP00000501701.1:n.*3819C>A
XM_005264254.1:c.4527C>A	XP_005264311.1:p.Phe1509Leu
XM_006711986.2:c.4530C>A	XP_006712049.1:p.Phe1510Leu
XM_006711986.3:c.4530C>A	XP_006712049.1:p.Phe1510Leu
XM_006711987.1:c.4593C>A	XP_006712050.1:p.Phe1531Leu
XM_011532757.1:c.3912C>A	XP_011531059.1:p.Phe1304Leu
XM_011532757.2:c.3912C>A	XP_011531059.1:p.Phe1304Leu
XM_011532759.1:c.3033C>A	XP_011531061.1:p.Phe1011Leu
XM_011532759.2:c.3033C>A	XP_011531061.1:p.Phe1011Leu
XM_011532760.1:c.2658C>A	XP_011531062.1:p.Phe886Leu
XM_011532760.2:c.2658C>A	XP_011531062.1:p.Phe886Leu
XM_017003790.1:c.4464C>A	XP_016859279.1:p.Phe1488Leu
XM_017003791.1:c.3912C>A	XP_016859280.1:p.Phe1304Leu
XM_017003793.1:c.2730C>A	XP_016859282.1:p.Phe910Leu
XM_017003794.1:c.2730C>A	XP_016859283.1:p.Phe910Leu
XM_017003795.1:c.2526C>A	XP_016859284.1:p.Phe842Leu