Canonical Allele Identifier: CA346384696

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27461478G>A , CM000664.2:g.27461478G>A	GRCh38
NC_000002.11:g.27684345G>A , CM000664.1:g.27684345G>A	GRCh37
NC_000002.10:g.27537849G>A	NCBI36
NG_034068.1:g.33334C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2233C>T MANE Select	NP_056477.1:p.Gln745Ter
ENST00000260570.8:c.2233C>T MANE Select	ENSP00000260570.3:p.Gln745Ter
NM_015662.2:c.2233C>T	NP_056477.1:p.Gln745Ter
ENST00000260570.7:c.2233C>T	ENSP00000260570.3:p.Gln745Ter
ENST00000507184.5:n.2365C>T
ENST00000674701.1:c.*1406C>T	ENSP00000502275.1:n.*1406C>T
ENST00000674824.1:c.*248C>T	ENSP00000501824.1:n.*248C>T
ENST00000674932.1:c.*1830C>T	ENSP00000501967.1:n.*1830C>T
ENST00000675410.1:c.1552C>T	ENSP00000502030.1:p.Gln518Ter
ENST00000675690.1:c.2167C>T	ENSP00000502283.1:p.Gln723Ter
ENST00000676119.1:c.*1523C>T	ENSP00000501701.1:n.*1523C>T
XM_005264254.1:c.2167C>T	XP_005264311.1:p.Gln723Ter
XM_006711986.2:c.2170C>T	XP_006712049.1:p.Gln724Ter
XM_006711986.3:c.2170C>T	XP_006712049.1:p.Gln724Ter
XM_006711987.1:c.2233C>T	XP_006712050.1:p.Gln745Ter
XM_011532757.1:c.1552C>T	XP_011531059.1:p.Gln518Ter
XM_011532757.2:c.1552C>T	XP_011531059.1:p.Gln518Ter
XM_011532758.1:c.2233C>T	XP_011531060.1:p.Gln745Ter
XM_011532759.1:c.673C>T	XP_011531061.1:p.Gln225Ter
XM_011532759.2:c.673C>T	XP_011531061.1:p.Gln225Ter
XM_011532760.1:c.298C>T	XP_011531062.1:p.Gln100Ter
XM_011532760.2:c.298C>T	XP_011531062.1:p.Gln100Ter
XM_017003790.1:c.2104C>T	XP_016859279.1:p.Gln702Ter
XM_017003791.1:c.1552C>T	XP_016859280.1:p.Gln518Ter
XM_017003792.1:c.2233C>T	XP_016859281.1:p.Gln745Ter
XM_017003793.1:c.370C>T	XP_016859282.1:p.Gln124Ter
XM_017003794.1:c.370C>T	XP_016859283.1:p.Gln124Ter
XM_017003795.1:c.166C>T	XP_016859284.1:p.Gln56Ter
XR_001738698.1:n.2288C>T