Canonical Allele Identifier: CA1581059

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27485023T>G , CM000664.2:g.27485023T>G	GRCh38
NC_000002.11:g.27707890T>G , CM000664.1:g.27707890T>G	GRCh37
NC_000002.10:g.27561394T>G	NCBI36
NG_034068.1:g.9789A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.291A>C MANE Select	NP_056477.1:p.Glu97Asp
ENST00000260570.8:c.291A>C MANE Select	ENSP00000260570.3:p.Glu97Asp
NM_015662.2:c.291A>C	NP_056477.1:p.Glu97Asp
ENST00000260570.7:c.291A>C	ENSP00000260570.3:p.Glu97Asp
ENST00000359466.10:c.291A>C	ENSP00000352443.6:p.Glu97Asp
ENST00000416524.2:c.228A>C	ENSP00000407408.2:p.Glu76Asp
ENST00000475476.2:n.392A>C
ENST00000476264.6:n.371A>C
ENST00000476264.7:n.381A>C
ENST00000507184.5:n.423A>C
ENST00000511842.5:n.316A>C
ENST00000674701.1:c.291A>C	ENSP00000502275.1:p.Glu97Asp
ENST00000674824.1:c.228A>C	ENSP00000501824.1:p.Glu76Asp
ENST00000674932.1:c.291A>C	ENSP00000501967.1:p.Glu97Asp
ENST00000675410.1:c.-385-757A>C	ENSP00000502030.1:n.-385-757A>C
ENST00000675618.1:n.371A>C
ENST00000675690.1:c.291A>C	ENSP00000502283.1:p.Glu97Asp
ENST00000675728.1:c.228A>C	ENSP00000501700.1:p.Glu76Asp
ENST00000675729.1:c.291A>C	ENSP00000502319.1:p.Glu97Asp
ENST00000675757.1:n.176A>C
ENST00000675925.1:n.672A>C
ENST00000675963.1:c.291A>C	ENSP00000502708.1:p.Glu97Asp
ENST00000676119.1:c.291A>C	ENSP00000501701.1:p.Glu97Asp
ENST00000676300.1:n.377A>C
XM_005264254.1:c.291A>C	XP_005264311.1:p.Glu97Asp
XM_006711986.2:c.228A>C	XP_006712049.1:p.Glu76Asp
XM_006711986.3:c.228A>C	XP_006712049.1:p.Glu76Asp
XM_006711987.1:c.291A>C	XP_006712050.1:p.Glu97Asp
XM_011532757.2:c.-590A>C	XP_011531059.1:n.-590A>C
XM_011532758.1:c.291A>C	XP_011531060.1:p.Glu97Asp
XM_017003790.1:c.228A>C	XP_016859279.1:p.Glu76Asp
XM_017003791.1:c.-351A>C	XP_016859280.1:n.-351A>C
XM_017003792.1:c.291A>C	XP_016859281.1:p.Glu97Asp
XM_017003793.1:c.-1120A>C	XP_016859282.1:n.-1120A>C
XM_017003795.1:c.-1731A>C	XP_016859284.1:n.-1731A>C
XR_001738698.1:n.346A>C