Canonical Allele Identifier: CA346382439

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27459519G>T , CM000664.2:g.27459519G>T	GRCh38
NC_000002.11:g.27682386G>T , CM000664.1:g.27682386G>T	GRCh37
NC_000002.10:g.27535890G>T	NCBI36
NG_034068.1:g.35293C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2646C>A MANE Select	NP_056477.1:p.Cys882Ter
ENST00000260570.8:c.2646C>A MANE Select	ENSP00000260570.3:p.Cys882Ter
NM_015662.2:c.2646C>A	NP_056477.1:p.Cys882Ter
ENST00000260570.7:c.2646C>A	ENSP00000260570.3:p.Cys882Ter
ENST00000507184.5:n.2778C>A
ENST00000674701.1:c.*1819C>A	ENSP00000502275.1:n.*1819C>A
ENST00000674824.1:c.*661C>A	ENSP00000501824.1:n.*661C>A
ENST00000674932.1:c.*2243C>A	ENSP00000501967.1:n.*2243C>A
ENST00000675410.1:c.1965C>A	ENSP00000502030.1:p.Cys655Ter
ENST00000675690.1:c.2580C>A	ENSP00000502283.1:p.Cys860Ter
ENST00000676119.1:c.*1936C>A	ENSP00000501701.1:n.*1936C>A
XM_005264254.1:c.2580C>A	XP_005264311.1:p.Cys860Ter
XM_006711986.2:c.2583C>A	XP_006712049.1:p.Cys861Ter
XM_006711986.3:c.2583C>A	XP_006712049.1:p.Cys861Ter
XM_006711987.1:c.2646C>A	XP_006712050.1:p.Cys882Ter
XM_011532757.1:c.1965C>A	XP_011531059.1:p.Cys655Ter
XM_011532757.2:c.1965C>A	XP_011531059.1:p.Cys655Ter
XM_011532758.1:c.2646C>A	XP_011531060.1:p.Cys882Ter
XM_011532759.1:c.1086C>A	XP_011531061.1:p.Cys362Ter
XM_011532759.2:c.1086C>A	XP_011531061.1:p.Cys362Ter
XM_011532760.1:c.711C>A	XP_011531062.1:p.Cys237Ter
XM_011532760.2:c.711C>A	XP_011531062.1:p.Cys237Ter
XM_017003790.1:c.2517C>A	XP_016859279.1:p.Cys839Ter
XM_017003791.1:c.1965C>A	XP_016859280.1:p.Cys655Ter
XM_017003792.1:c.2646C>A	XP_016859281.1:p.Cys882Ter
XM_017003793.1:c.783C>A	XP_016859282.1:p.Cys261Ter
XM_017003794.1:c.783C>A	XP_016859283.1:p.Cys261Ter
XM_017003795.1:c.579C>A	XP_016859284.1:p.Cys193Ter
XR_001738698.1:n.2701C>A