Canonical Allele Identifier: CA1580415

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27462713G>T , CM000664.2:g.27462713G>T	GRCh38
NC_000002.11:g.27685580G>T , CM000664.1:g.27685580G>T	GRCh37
NC_000002.10:g.27539084G>T	NCBI36
NG_034068.1:g.32099C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2103C>A MANE Select	NP_056477.1:p.Ile701=
ENST00000260570.8:c.2103C>A MANE Select	ENSP00000260570.3:p.Ile701=
NM_015662.2:c.2103C>A	NP_056477.1:p.Ile701=
ENST00000260570.7:c.2103C>A	ENSP00000260570.3:p.Ile701=
ENST00000507184.5:n.2235C>A
ENST00000674701.1:c.*1276C>A	ENSP00000502275.1:n.*1276C>A
ENST00000674824.1:c.*118C>A	ENSP00000501824.1:n.*118C>A
ENST00000674932.1:c.*1700C>A	ENSP00000501967.1:n.*1700C>A
ENST00000675410.1:c.1422C>A	ENSP00000502030.1:p.Ile474=
ENST00000675690.1:c.2037C>A	ENSP00000502283.1:p.Ile679=
ENST00000676119.1:c.*1393C>A	ENSP00000501701.1:n.*1393C>A
XM_005264254.1:c.2037C>A	XP_005264311.1:p.Ile679=
XM_006711986.2:c.2040C>A	XP_006712049.1:p.Ile680=
XM_006711986.3:c.2040C>A	XP_006712049.1:p.Ile680=
XM_006711987.1:c.2103C>A	XP_006712050.1:p.Ile701=
XM_011532757.1:c.1422C>A	XP_011531059.1:p.Ile474=
XM_011532757.2:c.1422C>A	XP_011531059.1:p.Ile474=
XM_011532758.1:c.2103C>A	XP_011531060.1:p.Ile701=
XM_011532759.1:c.543C>A	XP_011531061.1:p.Ile181=
XM_011532759.2:c.543C>A	XP_011531061.1:p.Ile181=
XM_011532760.1:c.168C>A	XP_011531062.1:p.Ile56=
XM_011532760.2:c.168C>A	XP_011531062.1:p.Ile56=
XM_017003790.1:c.1974C>A	XP_016859279.1:p.Ile658=
XM_017003791.1:c.1422C>A	XP_016859280.1:p.Ile474=
XM_017003792.1:c.2103C>A	XP_016859281.1:p.Ile701=
XM_017003793.1:c.240C>A	XP_016859282.1:p.Ile80=
XM_017003794.1:c.240C>A	XP_016859283.1:p.Ile80=
XM_017003795.1:c.36C>A	XP_016859284.1:p.Ile12=
XR_001738698.1:n.2158C>A