Canonical Allele Identifier: CA1579665

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27449331C>T , CM000664.2:g.27449331C>T	GRCh38
NC_000002.11:g.27672198C>T , CM000664.1:g.27672198C>T	GRCh37
NC_000002.10:g.27525702C>T	NCBI36
NG_034068.1:g.45481G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4274G>A MANE Select	NP_056477.1:p.Gly1425Asp
ENST00000260570.8:c.4274G>A MANE Select	ENSP00000260570.3:p.Gly1425Asp
NM_015662.2:c.4274G>A	NP_056477.1:p.Gly1425Asp
ENST00000260570.7:c.4274G>A	ENSP00000260570.3:p.Gly1425Asp
ENST00000450564.1:c.606G>A	ENSP00000399017.1:n.606G>A
ENST00000507184.5:n.4555G>A
ENST00000509128.5:c.669G>A
ENST00000674594.1:n.886G>A
ENST00000674701.1:c.*3787G>A	ENSP00000502275.1:n.*3787G>A
ENST00000674824.1:c.*2722G>A	ENSP00000501824.1:n.*2722G>A
ENST00000674932.1:c.*4720G>A	ENSP00000501967.1:n.*4720G>A
ENST00000675410.1:c.*2263G>A	ENSP00000502030.1:n.*2263G>A
ENST00000675690.1:c.4208G>A	ENSP00000502283.1:p.Gly1403Asp
ENST00000676119.1:c.*3500G>A	ENSP00000501701.1:n.*3500G>A
XM_005264254.1:c.4208G>A	XP_005264311.1:p.Gly1403Asp
XM_006711986.2:c.4211G>A	XP_006712049.1:p.Gly1404Asp
XM_006711986.3:c.4211G>A	XP_006712049.1:p.Gly1404Asp
XM_006711987.1:c.4274G>A	XP_006712050.1:p.Gly1425Asp
XM_011532757.1:c.3593G>A	XP_011531059.1:p.Gly1198Asp
XM_011532757.2:c.3593G>A	XP_011531059.1:p.Gly1198Asp
XM_011532759.1:c.2714G>A	XP_011531061.1:p.Gly905Asp
XM_011532759.2:c.2714G>A	XP_011531061.1:p.Gly905Asp
XM_011532760.1:c.2339G>A	XP_011531062.1:p.Gly780Asp
XM_011532760.2:c.2339G>A	XP_011531062.1:p.Gly780Asp
XM_017003790.1:c.4145G>A	XP_016859279.1:p.Gly1382Asp
XM_017003791.1:c.3593G>A	XP_016859280.1:p.Gly1198Asp
XM_017003793.1:c.2411G>A	XP_016859282.1:p.Gly804Asp
XM_017003794.1:c.2411G>A	XP_016859283.1:p.Gly804Asp
XM_017003795.1:c.2207G>A	XP_016859284.1:p.Gly736Asp
XR_001738698.1:n.4219G>A