Canonical Allele Identifier: CA44517484

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447563G>A , CM000664.2:g.27447563G>A	GRCh38
NC_000002.11:g.27670430G>A , CM000664.1:g.27670430G>A	GRCh37
NC_000002.10:g.27523934G>A	NCBI36
NG_034068.1:g.47249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4611C>T MANE Select	NP_056477.1:p.Ile1537=
ENST00000260570.8:c.4611C>T MANE Select	ENSP00000260570.3:p.Ile1537=
NM_015662.2:c.4611C>T	NP_056477.1:p.Ile1537=
ENST00000260570.7:c.4611C>T	ENSP00000260570.3:p.Ile1537=
ENST00000420854.1:c.183C>T	ENSP00000398633.1:p.Ile61=
ENST00000480892.1:n.14C>T
ENST00000507184.5:n.4892C>T
ENST00000509128.5:c.1029C>T
ENST00000674594.1:n.1223C>T
ENST00000674701.1:c.*4124C>T	ENSP00000502275.1:n.*4124C>T
ENST00000674824.1:c.*3059C>T	ENSP00000501824.1:n.*3059C>T
ENST00000674932.1:c.*5057C>T	ENSP00000501967.1:n.*5057C>T
ENST00000675410.1:c.*2600C>T	ENSP00000502030.1:n.*2600C>T
ENST00000675690.1:c.4545C>T	ENSP00000502283.1:p.Ile1515=
ENST00000676119.1:c.*3837C>T	ENSP00000501701.1:n.*3837C>T
XM_005264254.1:c.4545C>T	XP_005264311.1:p.Ile1515=
XM_006711986.2:c.4548C>T	XP_006712049.1:p.Ile1516=
XM_006711986.3:c.4548C>T	XP_006712049.1:p.Ile1516=
XM_006711987.1:c.4611C>T	XP_006712050.1:p.Ile1537=
XM_011532757.1:c.3930C>T	XP_011531059.1:p.Ile1310=
XM_011532757.2:c.3930C>T	XP_011531059.1:p.Ile1310=
XM_011532759.1:c.3051C>T	XP_011531061.1:p.Ile1017=
XM_011532759.2:c.3051C>T	XP_011531061.1:p.Ile1017=
XM_011532760.1:c.2676C>T	XP_011531062.1:p.Ile892=
XM_011532760.2:c.2676C>T	XP_011531062.1:p.Ile892=
XM_017003790.1:c.4482C>T	XP_016859279.1:p.Ile1494=
XM_017003791.1:c.3930C>T	XP_016859280.1:p.Ile1310=
XM_017003793.1:c.2748C>T	XP_016859282.1:p.Ile916=
XM_017003794.1:c.2748C>T	XP_016859283.1:p.Ile916=
XM_017003795.1:c.2544C>T	XP_016859284.1:p.Ile848=