Canonical Allele Identifier: CA1579814

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27453391C>T , CM000664.2:g.27453391C>T	GRCh38
NC_000002.11:g.27676258C>T , CM000664.1:g.27676258C>T	GRCh37
NC_000002.10:g.27529762C>T	NCBI36
NG_034068.1:g.41421G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3944G>A MANE Select	NP_056477.1:p.Trp1315Ter
ENST00000260570.8:c.3944G>A MANE Select	ENSP00000260570.3:p.Trp1315Ter
NM_015662.2:c.3944G>A	NP_056477.1:p.Trp1315Ter
ENST00000260570.7:c.3944G>A	ENSP00000260570.3:p.Trp1315Ter
ENST00000443889.1:c.549G>A
ENST00000450564.1:c.276G>A	ENSP00000399017.1:p.Leu92=
ENST00000475909.1:n.262G>A
ENST00000507184.5:n.4225G>A
ENST00000509128.5:c.339G>A
ENST00000674701.1:c.*3457G>A	ENSP00000502275.1:n.*3457G>A
ENST00000674824.1:c.*2392G>A	ENSP00000501824.1:n.*2392G>A
ENST00000674932.1:c.*4390G>A	ENSP00000501967.1:n.*4390G>A
ENST00000675410.1:c.*1815G>A	ENSP00000502030.1:n.*1815G>A
ENST00000675690.1:c.3878G>A	ENSP00000502283.1:p.Trp1293Ter
ENST00000676119.1:c.*3234G>A	ENSP00000501701.1:n.*3234G>A
XM_005264254.1:c.3878G>A	XP_005264311.1:p.Trp1293Ter
XM_006711986.2:c.3881G>A	XP_006712049.1:p.Trp1294Ter
XM_006711986.3:c.3881G>A	XP_006712049.1:p.Trp1294Ter
XM_006711987.1:c.3944G>A	XP_006712050.1:p.Trp1315Ter
XM_011532757.1:c.3263G>A	XP_011531059.1:p.Trp1088Ter
XM_011532757.2:c.3263G>A	XP_011531059.1:p.Trp1088Ter
XM_011532758.1:c.3944G>A	XP_011531060.1:p.Trp1315Ter
XM_011532759.1:c.2384G>A	XP_011531061.1:p.Trp795Ter
XM_011532759.2:c.2384G>A	XP_011531061.1:p.Trp795Ter
XM_011532760.1:c.2009G>A	XP_011531062.1:p.Trp670Ter
XM_011532760.2:c.2009G>A	XP_011531062.1:p.Trp670Ter
XM_017003790.1:c.3815G>A	XP_016859279.1:p.Trp1272Ter
XM_017003791.1:c.3263G>A	XP_016859280.1:p.Trp1088Ter
XM_017003792.1:c.3834G>A	XP_016859281.1:p.Leu1278=
XM_017003793.1:c.2081G>A	XP_016859282.1:p.Trp694Ter
XM_017003794.1:c.2081G>A	XP_016859283.1:p.Trp694Ter
XM_017003795.1:c.1877G>A	XP_016859284.1:p.Trp626Ter
XR_001738698.1:n.3889G>A