Canonical Allele Identifier: CA1579552

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447610C>T , CM000664.2:g.27447610C>T	GRCh38
NC_000002.11:g.27670477C>T , CM000664.1:g.27670477C>T	GRCh37
NC_000002.10:g.27523981C>T	NCBI36
NG_034068.1:g.47202G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4564G>A MANE Select	NP_056477.1:p.Glu1522Lys
ENST00000260570.8:c.4564G>A MANE Select	ENSP00000260570.3:p.Glu1522Lys
NM_015662.2:c.4564G>A	NP_056477.1:p.Glu1522Lys
ENST00000260570.7:c.4564G>A	ENSP00000260570.3:p.Glu1522Lys
ENST00000420854.1:c.136G>A	ENSP00000398633.1:p.Glu46Lys
ENST00000507184.5:n.4845G>A
ENST00000509128.5:c.982G>A
ENST00000674594.1:n.1176G>A
ENST00000674701.1:c.*4077G>A	ENSP00000502275.1:n.*4077G>A
ENST00000674824.1:c.*3012G>A	ENSP00000501824.1:n.*3012G>A
ENST00000674932.1:c.*5010G>A	ENSP00000501967.1:n.*5010G>A
ENST00000675410.1:c.*2553G>A	ENSP00000502030.1:n.*2553G>A
ENST00000675690.1:c.4498G>A	ENSP00000502283.1:p.Glu1500Lys
ENST00000676119.1:c.*3790G>A	ENSP00000501701.1:n.*3790G>A
XM_005264254.1:c.4498G>A	XP_005264311.1:p.Glu1500Lys
XM_006711986.2:c.4501G>A	XP_006712049.1:p.Glu1501Lys
XM_006711986.3:c.4501G>A	XP_006712049.1:p.Glu1501Lys
XM_006711987.1:c.4564G>A	XP_006712050.1:p.Glu1522Lys
XM_011532757.1:c.3883G>A	XP_011531059.1:p.Glu1295Lys
XM_011532757.2:c.3883G>A	XP_011531059.1:p.Glu1295Lys
XM_011532759.1:c.3004G>A	XP_011531061.1:p.Glu1002Lys
XM_011532759.2:c.3004G>A	XP_011531061.1:p.Glu1002Lys
XM_011532760.1:c.2629G>A	XP_011531062.1:p.Glu877Lys
XM_011532760.2:c.2629G>A	XP_011531062.1:p.Glu877Lys
XM_017003790.1:c.4435G>A	XP_016859279.1:p.Glu1479Lys
XM_017003791.1:c.3883G>A	XP_016859280.1:p.Glu1295Lys
XM_017003793.1:c.2701G>A	XP_016859282.1:p.Glu901Lys
XM_017003794.1:c.2701G>A	XP_016859283.1:p.Glu901Lys
XM_017003795.1:c.2497G>A	XP_016859284.1:p.Glu833Lys