Canonical Allele Identifier: CA1580315

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461256G>A , CM000664.2:g.27461256G>A	GRCh38
NC_000002.11:g.27684123G>A , CM000664.1:g.27684123G>A	GRCh37
NC_000002.10:g.27537627G>A	NCBI36
NG_034068.1:g.33556C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2442+13C>T MANE Select	NP_056477.1:n.2442+13C>T
ENST00000260570.8:c.2442+13C>T MANE Select	ENSP00000260570.3:n.2442+13C>T
NM_015662.2:c.2442+13C>T	NP_056477.1:n.2442+13C>T
ENST00000260570.7:c.2442+13C>T	ENSP00000260570.3:n.2442+13C>T
ENST00000507184.5:n.2574+13C>T
ENST00000674701.1:c.*1615+13C>T	ENSP00000502275.1:n.*1615+13C>T
ENST00000674824.1:c.*457+13C>T	ENSP00000501824.1:n.*457+13C>T
ENST00000674932.1:c.*2039+13C>T	ENSP00000501967.1:n.*2039+13C>T
ENST00000675410.1:c.1761+13C>T	ENSP00000502030.1:n.1761+13C>T
ENST00000675690.1:c.2376+13C>T	ENSP00000502283.1:n.2376+13C>T
ENST00000676119.1:c.*1732+13C>T	ENSP00000501701.1:n.*1732+13C>T
XM_005264254.1:c.2376+13C>T	XP_005264311.1:n.2376+13C>T
XM_006711986.2:c.2379+13C>T	XP_006712049.1:n.2379+13C>T
XM_006711986.3:c.2379+13C>T	XP_006712049.1:n.2379+13C>T
XM_006711987.1:c.2442+13C>T	XP_006712050.1:n.2442+13C>T
XM_011532757.1:c.1761+13C>T	XP_011531059.1:n.1761+13C>T
XM_011532757.2:c.1761+13C>T	XP_011531059.1:n.1761+13C>T
XM_011532758.1:c.2442+13C>T	XP_011531060.1:n.2442+13C>T
XM_011532759.1:c.882+13C>T	XP_011531061.1:n.882+13C>T
XM_011532759.2:c.882+13C>T	XP_011531061.1:n.882+13C>T
XM_011532760.1:c.507+13C>T	XP_011531062.1:n.507+13C>T
XM_011532760.2:c.507+13C>T	XP_011531062.1:n.507+13C>T
XM_017003790.1:c.2313+13C>T	XP_016859279.1:n.2313+13C>T
XM_017003791.1:c.1761+13C>T	XP_016859280.1:n.1761+13C>T
XM_017003792.1:c.2442+13C>T	XP_016859281.1:n.2442+13C>T
XM_017003793.1:c.579+13C>T	XP_016859282.1:n.579+13C>T
XM_017003794.1:c.579+13C>T	XP_016859283.1:n.579+13C>T
XM_017003795.1:c.375+13C>T	XP_016859284.1:n.375+13C>T
XR_001738698.1:n.2497+13C>T