Canonical Allele Identifier: CA346416673

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447583A>G , CM000664.2:g.27447583A>G	GRCh38
NC_000002.11:g.27670450A>G , CM000664.1:g.27670450A>G	GRCh37
NC_000002.10:g.27523954A>G	NCBI36
NG_034068.1:g.47229T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4591T>C MANE Select	NP_056477.1:p.Phe1531Leu
ENST00000260570.8:c.4591T>C MANE Select	ENSP00000260570.3:p.Phe1531Leu
NM_015662.2:c.4591T>C	NP_056477.1:p.Phe1531Leu
ENST00000260570.7:c.4591T>C	ENSP00000260570.3:p.Phe1531Leu
ENST00000420854.1:c.163T>C	ENSP00000398633.1:p.Phe55Leu
ENST00000507184.5:n.4872T>C
ENST00000509128.5:c.1009T>C
ENST00000674594.1:n.1203T>C
ENST00000674701.1:c.*4104T>C	ENSP00000502275.1:n.*4104T>C
ENST00000674824.1:c.*3039T>C	ENSP00000501824.1:n.*3039T>C
ENST00000674932.1:c.*5037T>C	ENSP00000501967.1:n.*5037T>C
ENST00000675410.1:c.*2580T>C	ENSP00000502030.1:n.*2580T>C
ENST00000675690.1:c.4525T>C	ENSP00000502283.1:p.Phe1509Leu
ENST00000676119.1:c.*3817T>C	ENSP00000501701.1:n.*3817T>C
XM_005264254.1:c.4525T>C	XP_005264311.1:p.Phe1509Leu
XM_006711986.2:c.4528T>C	XP_006712049.1:p.Phe1510Leu
XM_006711986.3:c.4528T>C	XP_006712049.1:p.Phe1510Leu
XM_006711987.1:c.4591T>C	XP_006712050.1:p.Phe1531Leu
XM_011532757.1:c.3910T>C	XP_011531059.1:p.Phe1304Leu
XM_011532757.2:c.3910T>C	XP_011531059.1:p.Phe1304Leu
XM_011532759.1:c.3031T>C	XP_011531061.1:p.Phe1011Leu
XM_011532759.2:c.3031T>C	XP_011531061.1:p.Phe1011Leu
XM_011532760.1:c.2656T>C	XP_011531062.1:p.Phe886Leu
XM_011532760.2:c.2656T>C	XP_011531062.1:p.Phe886Leu
XM_017003790.1:c.4462T>C	XP_016859279.1:p.Phe1488Leu
XM_017003791.1:c.3910T>C	XP_016859280.1:p.Phe1304Leu
XM_017003793.1:c.2728T>C	XP_016859282.1:p.Phe910Leu
XM_017003794.1:c.2728T>C	XP_016859283.1:p.Phe910Leu
XM_017003795.1:c.2524T>C	XP_016859284.1:p.Phe842Leu