Canonical Allele Identifier: CA1580465

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27463136A>T , CM000664.2:g.27463136A>T	GRCh38
NC_000002.11:g.27686003A>T , CM000664.1:g.27686003A>T	GRCh37
NC_000002.10:g.27539507A>T	NCBI36
NG_034068.1:g.31676T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1983T>A MANE Select	NP_056477.1:p.His661Gln
ENST00000260570.8:c.1983T>A MANE Select	ENSP00000260570.3:p.His661Gln
NM_015662.2:c.1983T>A	NP_056477.1:p.His661Gln
ENST00000260570.7:c.1983T>A	ENSP00000260570.3:p.His661Gln
ENST00000507184.5:n.2115T>A
ENST00000674701.1:c.*1156T>A	ENSP00000502275.1:n.*1156T>A
ENST00000674824.1:c.1609T>A	ENSP00000501824.1:p.Ter537Arg
ENST00000674932.1:c.*1580T>A	ENSP00000501967.1:n.*1580T>A
ENST00000675410.1:c.1302T>A	ENSP00000502030.1:p.His434Gln
ENST00000675690.1:c.1917T>A	ENSP00000502283.1:p.His639Gln
ENST00000676119.1:c.*1273T>A	ENSP00000501701.1:n.*1273T>A
XM_005264254.1:c.1917T>A	XP_005264311.1:p.His639Gln
XM_006711986.2:c.1920T>A	XP_006712049.1:p.His640Gln
XM_006711986.3:c.1920T>A	XP_006712049.1:p.His640Gln
XM_006711987.1:c.1983T>A	XP_006712050.1:p.His661Gln
XM_011532757.1:c.1302T>A	XP_011531059.1:p.His434Gln
XM_011532757.2:c.1302T>A	XP_011531059.1:p.His434Gln
XM_011532758.1:c.1983T>A	XP_011531060.1:p.His661Gln
XM_011532759.1:c.423T>A	XP_011531061.1:p.His141Gln
XM_011532759.2:c.423T>A	XP_011531061.1:p.His141Gln
XM_011532760.1:c.48T>A	XP_011531062.1:p.His16Gln
XM_011532760.2:c.48T>A	XP_011531062.1:p.His16Gln
XM_017003790.1:c.1854T>A	XP_016859279.1:p.His618Gln
XM_017003791.1:c.1302T>A	XP_016859280.1:p.His434Gln
XM_017003792.1:c.1983T>A	XP_016859281.1:p.His661Gln
XM_017003793.1:c.120T>A	XP_016859282.1:p.His40Gln
XM_017003794.1:c.120T>A	XP_016859283.1:p.His40Gln
XM_017003795.1:c.-85T>A	XP_016859284.1:n.-85T>A
XR_001738698.1:n.2038T>A