Canonical Allele Identifier: CA1580072

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27457737G>A , CM000664.2:g.27457737G>A	GRCh38
NC_000002.11:g.27680604G>A , CM000664.1:g.27680604G>A	GRCh37
NC_000002.10:g.27534108G>A	NCBI36
NG_034068.1:g.37075C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3130C>T MANE Select	NP_056477.1:p.Arg1044Ter
ENST00000260570.8:c.3130C>T MANE Select	ENSP00000260570.3:p.Arg1044Ter
NM_015662.2:c.3130C>T	NP_056477.1:p.Arg1044Ter
ENST00000260570.7:c.3130C>T	ENSP00000260570.3:p.Arg1044Ter
ENST00000507184.5:n.3411C>T
ENST00000674701.1:c.*2452C>T	ENSP00000502275.1:n.*2452C>T
ENST00000674824.1:c.*1145C>T	ENSP00000501824.1:n.*1145C>T
ENST00000674932.1:c.*3385C>T	ENSP00000501967.1:n.*3385C>T
ENST00000675410.1:c.*810C>T	ENSP00000502030.1:n.*810C>T
ENST00000675690.1:c.3064C>T	ENSP00000502283.1:p.Arg1022Ter
ENST00000676119.1:c.*2420C>T	ENSP00000501701.1:n.*2420C>T
XM_005264254.1:c.3064C>T	XP_005264311.1:p.Arg1022Ter
XM_006711986.2:c.3067C>T	XP_006712049.1:p.Arg1023Ter
XM_006711986.3:c.3067C>T	XP_006712049.1:p.Arg1023Ter
XM_006711987.1:c.3130C>T	XP_006712050.1:p.Arg1044Ter
XM_011532757.1:c.2449C>T	XP_011531059.1:p.Arg817Ter
XM_011532757.2:c.2449C>T	XP_011531059.1:p.Arg817Ter
XM_011532758.1:c.3130C>T	XP_011531060.1:p.Arg1044Ter
XM_011532759.1:c.1570C>T	XP_011531061.1:p.Arg524Ter
XM_011532759.2:c.1570C>T	XP_011531061.1:p.Arg524Ter
XM_011532760.1:c.1195C>T	XP_011531062.1:p.Arg399Ter
XM_011532760.2:c.1195C>T	XP_011531062.1:p.Arg399Ter
XM_017003790.1:c.3001C>T	XP_016859279.1:p.Arg1001Ter
XM_017003791.1:c.2449C>T	XP_016859280.1:p.Arg817Ter
XM_017003792.1:c.3130C>T	XP_016859281.1:p.Arg1044Ter
XM_017003793.1:c.1267C>T	XP_016859282.1:p.Arg423Ter
XM_017003794.1:c.1267C>T	XP_016859283.1:p.Arg423Ter
XM_017003795.1:c.1063C>T	XP_016859284.1:p.Arg355Ter
XR_001738698.1:n.3185C>T