Canonical Allele Identifier: CA346385334

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27463147G>A , CM000664.2:g.27463147G>A	GRCh38
NC_000002.11:g.27686014G>A , CM000664.1:g.27686014G>A	GRCh37
NC_000002.10:g.27539518G>A	NCBI36
NG_034068.1:g.31665C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1972C>T MANE Select	NP_056477.1:p.Arg658Ter
ENST00000260570.8:c.1972C>T MANE Select	ENSP00000260570.3:p.Arg658Ter
NM_015662.2:c.1972C>T	NP_056477.1:p.Arg658Ter
ENST00000260570.7:c.1972C>T	ENSP00000260570.3:p.Arg658Ter
ENST00000507184.5:n.2104C>T
ENST00000674701.1:c.*1145C>T	ENSP00000502275.1:n.*1145C>T
ENST00000674824.1:c.1598C>T	ENSP00000501824.1:p.Ser533Leu
ENST00000674932.1:c.*1569C>T	ENSP00000501967.1:n.*1569C>T
ENST00000675410.1:c.1291C>T	ENSP00000502030.1:p.Arg431Ter
ENST00000675690.1:c.1906C>T	ENSP00000502283.1:p.Arg636Ter
ENST00000676119.1:c.*1262C>T	ENSP00000501701.1:n.*1262C>T
XM_005264254.1:c.1906C>T	XP_005264311.1:p.Arg636Ter
XM_006711986.2:c.1909C>T	XP_006712049.1:p.Arg637Ter
XM_006711986.3:c.1909C>T	XP_006712049.1:p.Arg637Ter
XM_006711987.1:c.1972C>T	XP_006712050.1:p.Arg658Ter
XM_011532757.1:c.1291C>T	XP_011531059.1:p.Arg431Ter
XM_011532757.2:c.1291C>T	XP_011531059.1:p.Arg431Ter
XM_011532758.1:c.1972C>T	XP_011531060.1:p.Arg658Ter
XM_011532759.1:c.412C>T	XP_011531061.1:p.Arg138Ter
XM_011532759.2:c.412C>T	XP_011531061.1:p.Arg138Ter
XM_011532760.1:c.37C>T	XP_011531062.1:p.Arg13Ter
XM_011532760.2:c.37C>T	XP_011531062.1:p.Arg13Ter
XM_017003790.1:c.1843C>T	XP_016859279.1:p.Arg615Ter
XM_017003791.1:c.1291C>T	XP_016859280.1:p.Arg431Ter
XM_017003792.1:c.1972C>T	XP_016859281.1:p.Arg658Ter
XM_017003793.1:c.109C>T	XP_016859282.1:p.Arg37Ter
XM_017003794.1:c.109C>T	XP_016859283.1:p.Arg37Ter
XM_017003795.1:c.-96C>T	XP_016859284.1:n.-96C>T
XR_001738698.1:n.2027C>T