Canonical Allele Identifier: CA1240279751

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447567A= , CM000664.2:g.27447567A=	GRCh38
NC_000002.11:g.27670434A= , CM000664.1:g.27670434A=	GRCh37
NC_000002.10:g.27523938A=	NCBI36
NG_034068.1:g.47245T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4607T= MANE Select	NP_056477.1:p.Leu1536=
ENST00000260570.8:c.4607T= MANE Select	ENSP00000260570.3:p.Leu1536=
NM_015662.2:c.4607T=	NP_056477.1:p.Leu1536=
ENST00000260570.7:c.4607T=	ENSP00000260570.3:p.Leu1536=
ENST00000420854.1:c.179T=	ENSP00000398633.1:p.Leu60=
ENST00000480892.1:n.10T=
ENST00000507184.5:n.4888T=
ENST00000509128.5:c.1025T=
ENST00000674594.1:n.1219T=
ENST00000674701.1:c.*4120T=	ENSP00000502275.1:n.*4120T=
ENST00000674824.1:c.*3055T=	ENSP00000501824.1:n.*3055T=
ENST00000674932.1:c.*5053T=	ENSP00000501967.1:n.*5053T=
ENST00000675410.1:c.*2596T=	ENSP00000502030.1:n.*2596T=
ENST00000675690.1:c.4541T=	ENSP00000502283.1:p.Leu1514=
ENST00000676119.1:c.*3833T=	ENSP00000501701.1:n.*3833T=
XM_005264254.1:c.4541T=	XP_005264311.1:p.Leu1514=
XM_006711986.2:c.4544T=	XP_006712049.1:p.Leu1515=
XM_006711986.3:c.4544T=	XP_006712049.1:p.Leu1515=
XM_006711987.1:c.4607T=	XP_006712050.1:p.Leu1536=
XM_011532757.1:c.3926T=	XP_011531059.1:p.Leu1309=
XM_011532757.2:c.3926T=	XP_011531059.1:p.Leu1309=
XM_011532759.1:c.3047T=	XP_011531061.1:p.Leu1016=
XM_011532759.2:c.3047T=	XP_011531061.1:p.Leu1016=
XM_011532760.1:c.2672T=	XP_011531062.1:p.Leu891=
XM_011532760.2:c.2672T=	XP_011531062.1:p.Leu891=
XM_017003790.1:c.4478T=	XP_016859279.1:p.Leu1493=
XM_017003791.1:c.3926T=	XP_016859280.1:p.Leu1309=
XM_017003793.1:c.2744T=	XP_016859282.1:p.Leu915=
XM_017003794.1:c.2744T=	XP_016859283.1:p.Leu915=
XM_017003795.1:c.2540T=	XP_016859284.1:p.Leu847=