Canonical Allele Identifier: CA1240298015

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480077T= , CM000664.2:g.27480077T=	GRCh38
NC_000002.11:g.27702944T= , CM000664.1:g.27702944T=	GRCh37
NC_000002.10:g.27556448T=	NCBI36
NG_034068.1:g.14735A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.858A= MANE Select	ENSP00000260570.3:p.Leu286=
ENST00000476264.7:n.1147A=
ENST00000674701.1:c.858A=	ENSP00000502275.1:p.Leu286=
ENST00000674824.1:c.795A=	ENSP00000501824.1:p.Leu265=
ENST00000674932.1:c.*521A=	ENSP00000501967.1:n.*521A=
ENST00000675410.1:c.177A=	ENSP00000502030.1:p.Leu59=
ENST00000675618.1:n.938A=
ENST00000675690.1:c.858A=	ENSP00000502283.1:p.Leu286=
ENST00000675728.1:c.795A=	ENSP00000501700.1:p.Leu265=
ENST00000675729.1:c.858A=	ENSP00000502319.1:p.Leu286=
ENST00000675963.1:c.*556A=	ENSP00000502708.1:n.*556A=
ENST00000676119.1:c.*148A=	ENSP00000501701.1:n.*148A=
ENST00000676300.1:n.944A=
ENST00000260570.7:c.858A=	ENSP00000260570.3:p.Leu286=
ENST00000359466.10:c.858A=	ENSP00000352443.6:p.Leu286=
ENST00000416524.2:c.795A=	ENSP00000407408.2:p.Leu265=
ENST00000476264.6:n.804A=
ENST00000507184.5:n.990A=
ENST00000511842.5:n.883A=
NM_015662.2:c.858A=	NP_056477.1:p.Leu286=
XM_005264254.1:c.858A=	XP_005264311.1:p.Leu286=
XM_006711986.2:c.795A=	XP_006712049.1:p.Leu265=
XM_006711987.1:c.858A=	XP_006712050.1:p.Leu286=
XM_011532757.1:c.177A=	XP_011531059.1:p.Leu59=
XM_011532758.1:c.858A=	XP_011531060.1:p.Leu286=
XM_006711986.3:c.795A=	XP_006712049.1:p.Leu265=
XM_011532757.2:c.177A=	XP_011531059.1:p.Leu59=
XM_017003790.1:c.795A=	XP_016859279.1:p.Leu265=
XM_017003791.1:c.177A=	XP_016859280.1:p.Leu59=
XM_017003792.1:c.858A=	XP_016859281.1:p.Leu286=
XM_017003793.1:c.-593A=	XP_016859282.1:n.-593A=
XM_017003794.1:c.-593A=	XP_016859283.1:n.-593A=
XM_017003795.1:c.-965A=	XP_016859284.1:n.-965A=
XR_001738698.1:n.913A=
NM_015662.3:c.858A= MANE Select	NP_056477.1:p.Leu286=