Canonical Allele Identifier: CA1580032

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27456614C>T , CM000664.2:g.27456614C>T	GRCh38
NC_000002.11:g.27679481C>T , CM000664.1:g.27679481C>T	GRCh37
NC_000002.10:g.27532985C>T	NCBI36
NG_034068.1:g.38198G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3268G>A MANE Select	NP_056477.1:p.Val1090Met
ENST00000260570.8:c.3268G>A MANE Select	ENSP00000260570.3:p.Val1090Met
NM_015662.2:c.3268G>A	NP_056477.1:p.Val1090Met
ENST00000260570.7:c.3268G>A	ENSP00000260570.3:p.Val1090Met
ENST00000507184.5:n.3549G>A
ENST00000674701.1:c.*2590G>A	ENSP00000502275.1:n.*2590G>A
ENST00000674824.1:c.*1283G>A	ENSP00000501824.1:n.*1283G>A
ENST00000674932.1:c.*3523G>A	ENSP00000501967.1:n.*3523G>A
ENST00000675410.1:c.*948G>A	ENSP00000502030.1:n.*948G>A
ENST00000675690.1:c.3202G>A	ENSP00000502283.1:p.Val1068Met
ENST00000676119.1:c.*2558G>A	ENSP00000501701.1:n.*2558G>A
XM_005264254.1:c.3202G>A	XP_005264311.1:p.Val1068Met
XM_006711986.2:c.3205G>A	XP_006712049.1:p.Val1069Met
XM_006711986.3:c.3205G>A	XP_006712049.1:p.Val1069Met
XM_006711987.1:c.3268G>A	XP_006712050.1:p.Val1090Met
XM_011532757.1:c.2587G>A	XP_011531059.1:p.Val863Met
XM_011532757.2:c.2587G>A	XP_011531059.1:p.Val863Met
XM_011532758.1:c.3268G>A	XP_011531060.1:p.Val1090Met
XM_011532759.1:c.1708G>A	XP_011531061.1:p.Val570Met
XM_011532759.2:c.1708G>A	XP_011531061.1:p.Val570Met
XM_011532760.1:c.1333G>A	XP_011531062.1:p.Val445Met
XM_011532760.2:c.1333G>A	XP_011531062.1:p.Val445Met
XM_017003790.1:c.3139G>A	XP_016859279.1:p.Val1047Met
XM_017003791.1:c.2587G>A	XP_016859280.1:p.Val863Met
XM_017003792.1:c.3268G>A	XP_016859281.1:p.Val1090Met
XM_017003793.1:c.1405G>A	XP_016859282.1:p.Val469Met
XM_017003794.1:c.1405G>A	XP_016859283.1:p.Val469Met
XM_017003795.1:c.1201G>A	XP_016859284.1:p.Val401Met
XR_001738698.1:n.3323G>A