Canonical Allele Identifier: CA1580626

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27472251C>T , CM000664.2:g.27472251C>T	GRCh38
NC_000002.11:g.27695118C>T , CM000664.1:g.27695118C>T	GRCh37
NC_000002.10:g.27548622C>T	NCBI36
NG_034068.1:g.22561G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1523G>A MANE Select	NP_056477.1:p.Arg508His
ENST00000260570.8:c.1523G>A MANE Select	ENSP00000260570.3:p.Arg508His
NM_015662.2:c.1523G>A	NP_056477.1:p.Arg508His
ENST00000260570.7:c.1523G>A	ENSP00000260570.3:p.Arg508His
ENST00000359466.10:c.1523G>A	ENSP00000352443.6:p.Arg508His
ENST00000416524.2:c.1460G>A	ENSP00000407408.2:p.Arg487His
ENST00000507184.5:n.1655G>A
ENST00000511842.5:n.1548G>A
ENST00000674701.1:c.1523G>A	ENSP00000502275.1:p.Arg508His
ENST00000674824.1:c.1460G>A	ENSP00000501824.1:p.Arg487His
ENST00000674932.1:c.*1186G>A	ENSP00000501967.1:n.*1186G>A
ENST00000675410.1:c.842G>A	ENSP00000502030.1:p.Arg281His
ENST00000675618.1:n.2093G>A
ENST00000675690.1:c.1523G>A	ENSP00000502283.1:p.Arg508His
ENST00000675728.1:c.1460G>A	ENSP00000501700.1:p.Arg487His
ENST00000675729.1:c.*69G>A	ENSP00000502319.1:n.*69G>A
ENST00000675963.1:c.*1221G>A	ENSP00000502708.1:n.*1221G>A
ENST00000676119.1:c.*813G>A	ENSP00000501701.1:n.*813G>A
XM_005264254.1:c.1523G>A	XP_005264311.1:p.Arg508His
XM_006711986.2:c.1460G>A	XP_006712049.1:p.Arg487His
XM_006711986.3:c.1460G>A	XP_006712049.1:p.Arg487His
XM_006711987.1:c.1523G>A	XP_006712050.1:p.Arg508His
XM_011532757.1:c.842G>A	XP_011531059.1:p.Arg281His
XM_011532757.2:c.842G>A	XP_011531059.1:p.Arg281His
XM_011532758.1:c.1523G>A	XP_011531060.1:p.Arg508His
XM_017003790.1:c.1460G>A	XP_016859279.1:p.Arg487His
XM_017003791.1:c.842G>A	XP_016859280.1:p.Arg281His
XM_017003792.1:c.1523G>A	XP_016859281.1:p.Arg508His
XM_017003793.1:c.73G>A	XP_016859282.1:p.Val25Met
XM_017003794.1:c.73G>A	XP_016859283.1:p.Val25Met
XM_017003795.1:c.-300G>A	XP_016859284.1:n.-300G>A
XR_001738698.1:n.1578G>A