Canonical Allele Identifier: CA346384743

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461502C>A , CM000664.2:g.27461502C>A	GRCh38
NC_000002.11:g.27684369C>A , CM000664.1:g.27684369C>A	GRCh37
NC_000002.10:g.27537873C>A	NCBI36
NG_034068.1:g.33310G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2209G>T MANE Select	NP_056477.1:p.Glu737Ter
ENST00000260570.8:c.2209G>T MANE Select	ENSP00000260570.3:p.Glu737Ter
NM_015662.2:c.2209G>T	NP_056477.1:p.Glu737Ter
ENST00000260570.7:c.2209G>T	ENSP00000260570.3:p.Glu737Ter
ENST00000507184.5:n.2341G>T
ENST00000674701.1:c.*1382G>T	ENSP00000502275.1:n.*1382G>T
ENST00000674824.1:c.*224G>T	ENSP00000501824.1:n.*224G>T
ENST00000674932.1:c.*1806G>T	ENSP00000501967.1:n.*1806G>T
ENST00000675410.1:c.1528G>T	ENSP00000502030.1:p.Glu510Ter
ENST00000675690.1:c.2143G>T	ENSP00000502283.1:p.Glu715Ter
ENST00000676119.1:c.*1499G>T	ENSP00000501701.1:n.*1499G>T
XM_005264254.1:c.2143G>T	XP_005264311.1:p.Glu715Ter
XM_006711986.2:c.2146G>T	XP_006712049.1:p.Glu716Ter
XM_006711986.3:c.2146G>T	XP_006712049.1:p.Glu716Ter
XM_006711987.1:c.2209G>T	XP_006712050.1:p.Glu737Ter
XM_011532757.1:c.1528G>T	XP_011531059.1:p.Glu510Ter
XM_011532757.2:c.1528G>T	XP_011531059.1:p.Glu510Ter
XM_011532758.1:c.2209G>T	XP_011531060.1:p.Glu737Ter
XM_011532759.1:c.649G>T	XP_011531061.1:p.Glu217Ter
XM_011532759.2:c.649G>T	XP_011531061.1:p.Glu217Ter
XM_011532760.1:c.274G>T	XP_011531062.1:p.Glu92Ter
XM_011532760.2:c.274G>T	XP_011531062.1:p.Glu92Ter
XM_017003790.1:c.2080G>T	XP_016859279.1:p.Glu694Ter
XM_017003791.1:c.1528G>T	XP_016859280.1:p.Glu510Ter
XM_017003792.1:c.2209G>T	XP_016859281.1:p.Glu737Ter
XM_017003793.1:c.346G>T	XP_016859282.1:p.Glu116Ter
XM_017003794.1:c.346G>T	XP_016859283.1:p.Glu116Ter
XM_017003795.1:c.142G>T	XP_016859284.1:p.Glu48Ter
XR_001738698.1:n.2264G>T