Canonical Allele Identifier: CA1579588

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447832G>A , CM000664.2:g.27447832G>A	GRCh38
NC_000002.11:g.27670699G>A , CM000664.1:g.27670699G>A	GRCh37
NC_000002.10:g.27524203G>A	NCBI36
NG_034068.1:g.46980C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4519C>T MANE Select	NP_056477.1:p.Arg1507Ter
ENST00000260570.8:c.4519C>T MANE Select	ENSP00000260570.3:p.Arg1507Ter
NM_015662.2:c.4519C>T	NP_056477.1:p.Arg1507Ter
ENST00000260570.7:c.4519C>T	ENSP00000260570.3:p.Arg1507Ter
ENST00000420854.1:c.91C>T	ENSP00000398633.1:p.Arg31Ter
ENST00000507184.5:n.4800C>T
ENST00000509128.5:c.914C>T
ENST00000674594.1:n.1131C>T
ENST00000674701.1:c.*4032C>T	ENSP00000502275.1:n.*4032C>T
ENST00000674824.1:c.*2967C>T	ENSP00000501824.1:n.*2967C>T
ENST00000674932.1:c.*4965C>T	ENSP00000501967.1:n.*4965C>T
ENST00000675410.1:c.*2508C>T	ENSP00000502030.1:n.*2508C>T
ENST00000675690.1:c.4453C>T	ENSP00000502283.1:p.Arg1485Ter
ENST00000676119.1:c.*3745C>T	ENSP00000501701.1:n.*3745C>T
XM_005264254.1:c.4453C>T	XP_005264311.1:p.Arg1485Ter
XM_006711986.2:c.4456C>T	XP_006712049.1:p.Arg1486Ter
XM_006711986.3:c.4456C>T	XP_006712049.1:p.Arg1486Ter
XM_006711987.1:c.4519C>T	XP_006712050.1:p.Arg1507Ter
XM_011532757.1:c.3838C>T	XP_011531059.1:p.Arg1280Ter
XM_011532757.2:c.3838C>T	XP_011531059.1:p.Arg1280Ter
XM_011532759.1:c.2959C>T	XP_011531061.1:p.Arg987Ter
XM_011532759.2:c.2959C>T	XP_011531061.1:p.Arg987Ter
XM_011532760.1:c.2584C>T	XP_011531062.1:p.Arg862Ter
XM_011532760.2:c.2584C>T	XP_011531062.1:p.Arg862Ter
XM_017003790.1:c.4390C>T	XP_016859279.1:p.Arg1464Ter
XM_017003791.1:c.3838C>T	XP_016859280.1:p.Arg1280Ter
XM_017003793.1:c.2656C>T	XP_016859282.1:p.Arg886Ter
XM_017003794.1:c.2656C>T	XP_016859283.1:p.Arg886Ter
XM_017003795.1:c.2452C>T	XP_016859284.1:p.Arg818Ter