Canonical Allele Identifier: CA346387630

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27465883C>T , CM000664.2:g.27465883C>T	GRCh38
NC_000002.11:g.27688750C>T , CM000664.1:g.27688750C>T	GRCh37
NC_000002.10:g.27542254C>T	NCBI36
NG_034068.1:g.28929G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1693-1G>A MANE Select	NP_056477.1:n.1693-1G>A
ENST00000260570.8:c.1693-1G>A MANE Select	ENSP00000260570.3:n.1693-1G>A
NM_015662.2:c.1693-1G>A	NP_056477.1:n.1693-1G>A
ENST00000260570.7:c.1693-1G>A	ENSP00000260570.3:n.1693-1G>A
ENST00000489492.1:n.199G>A
ENST00000507184.5:n.1825-1G>A
ENST00000674701.1:c.*1111-2702G>A	ENSP00000502275.1:n.*1111-2702G>A
ENST00000674824.1:c.1564-2702G>A	ENSP00000501824.1:n.1564-2702G>A
ENST00000674932.1:c.*1290-1G>A	ENSP00000501967.1:n.*1290-1G>A
ENST00000675410.1:c.1012-1G>A	ENSP00000502030.1:n.1012-1G>A
ENST00000675618.1:n.2263-1G>A
ENST00000675690.1:c.1627-1G>A	ENSP00000502283.1:n.1627-1G>A
ENST00000675729.1:c.*1256-1G>A	ENSP00000502319.1:n.*1256-1G>A
ENST00000675826.1:n.1299-1G>A
ENST00000675963.1:c.*1325-1G>A	ENSP00000502708.1:n.*1325-1G>A
ENST00000676101.1:n.946-1G>A
ENST00000676119.1:c.*983-1G>A	ENSP00000501701.1:n.*983-1G>A
XM_005264254.1:c.1627-1G>A	XP_005264311.1:n.1627-1G>A
XM_006711986.2:c.1630-1G>A	XP_006712049.1:n.1630-1G>A
XM_006711986.3:c.1630-1G>A	XP_006712049.1:n.1630-1G>A
XM_006711987.1:c.1693-1G>A	XP_006712050.1:n.1693-1G>A
XM_011532757.1:c.1012-1G>A	XP_011531059.1:n.1012-1G>A
XM_011532757.2:c.1012-1G>A	XP_011531059.1:n.1012-1G>A
XM_011532758.1:c.1693-1G>A	XP_011531060.1:n.1693-1G>A
XM_011532759.1:c.133-1G>A	XP_011531061.1:n.133-1G>A
XM_011532759.2:c.133-1G>A	XP_011531061.1:n.133-1G>A
XM_017003790.1:c.1564-1G>A	XP_016859279.1:n.1564-1G>A
XM_017003791.1:c.1012-1G>A	XP_016859280.1:n.1012-1G>A
XM_017003792.1:c.1693-1G>A	XP_016859281.1:n.1693-1G>A
XM_017003793.1:c.75-2702G>A	XP_016859282.1:n.75-2702G>A
XM_017003794.1:c.75-2702G>A	XP_016859283.1:n.75-2702G>A
XM_017003795.1:c.-130-2702G>A	XP_016859284.1:n.-130-2702G>A
XR_001738698.1:n.1748-1G>A