Canonical Allele Identifier: CA346385340

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27463150C>T , CM000664.2:g.27463150C>T	GRCh38
NC_000002.11:g.27686017C>T , CM000664.1:g.27686017C>T	GRCh37
NC_000002.10:g.27539521C>T	NCBI36
NG_034068.1:g.31662G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1969G>A MANE Select	NP_056477.1:p.Ala657Thr
ENST00000260570.8:c.1969G>A MANE Select	ENSP00000260570.3:p.Ala657Thr
NM_015662.2:c.1969G>A	NP_056477.1:p.Ala657Thr
ENST00000260570.7:c.1969G>A	ENSP00000260570.3:p.Ala657Thr
ENST00000507184.5:n.2101G>A
ENST00000674701.1:c.*1142G>A	ENSP00000502275.1:n.*1142G>A
ENST00000674824.1:c.1595G>A	ENSP00000501824.1:p.Ser532Asn
ENST00000674932.1:c.*1566G>A	ENSP00000501967.1:n.*1566G>A
ENST00000675410.1:c.1288G>A	ENSP00000502030.1:p.Ala430Thr
ENST00000675690.1:c.1903G>A	ENSP00000502283.1:p.Ala635Thr
ENST00000676119.1:c.*1259G>A	ENSP00000501701.1:n.*1259G>A
XM_005264254.1:c.1903G>A	XP_005264311.1:p.Ala635Thr
XM_006711986.2:c.1906G>A	XP_006712049.1:p.Ala636Thr
XM_006711986.3:c.1906G>A	XP_006712049.1:p.Ala636Thr
XM_006711987.1:c.1969G>A	XP_006712050.1:p.Ala657Thr
XM_011532757.1:c.1288G>A	XP_011531059.1:p.Ala430Thr
XM_011532757.2:c.1288G>A	XP_011531059.1:p.Ala430Thr
XM_011532758.1:c.1969G>A	XP_011531060.1:p.Ala657Thr
XM_011532759.1:c.409G>A	XP_011531061.1:p.Ala137Thr
XM_011532759.2:c.409G>A	XP_011531061.1:p.Ala137Thr
XM_011532760.1:c.34G>A	XP_011531062.1:p.Ala12Thr
XM_011532760.2:c.34G>A	XP_011531062.1:p.Ala12Thr
XM_017003790.1:c.1840G>A	XP_016859279.1:p.Ala614Thr
XM_017003791.1:c.1288G>A	XP_016859280.1:p.Ala430Thr
XM_017003792.1:c.1969G>A	XP_016859281.1:p.Ala657Thr
XM_017003793.1:c.106G>A	XP_016859282.1:p.Ala36Thr
XM_017003794.1:c.106G>A	XP_016859283.1:p.Ala36Thr
XM_017003795.1:c.-99G>A	XP_016859284.1:n.-99G>A
XR_001738698.1:n.2024G>A