Canonical Allele Identifier: CA1580459

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27463104C>T , CM000664.2:g.27463104C>T	GRCh38
NC_000002.11:g.27685971C>T , CM000664.1:g.27685971C>T	GRCh37
NC_000002.10:g.27539475C>T	NCBI36
NG_034068.1:g.31708G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.2015G>A MANE Select	NP_056477.1:p.Arg672Gln
ENST00000260570.8:c.2015G>A MANE Select	ENSP00000260570.3:p.Arg672Gln
NM_015662.2:c.2015G>A	NP_056477.1:p.Arg672Gln
ENST00000260570.7:c.2015G>A	ENSP00000260570.3:p.Arg672Gln
ENST00000507184.5:n.2147G>A
ENST00000674701.1:c.*1188G>A	ENSP00000502275.1:n.*1188G>A
ENST00000674824.1:c.*30G>A	ENSP00000501824.1:n.*30G>A
ENST00000674932.1:c.*1612G>A	ENSP00000501967.1:n.*1612G>A
ENST00000675410.1:c.1334G>A	ENSP00000502030.1:p.Arg445Gln
ENST00000675690.1:c.1949G>A	ENSP00000502283.1:p.Arg650Gln
ENST00000676119.1:c.*1305G>A	ENSP00000501701.1:n.*1305G>A
XM_005264254.1:c.1949G>A	XP_005264311.1:p.Arg650Gln
XM_006711986.2:c.1952G>A	XP_006712049.1:p.Arg651Gln
XM_006711986.3:c.1952G>A	XP_006712049.1:p.Arg651Gln
XM_006711987.1:c.2015G>A	XP_006712050.1:p.Arg672Gln
XM_011532757.1:c.1334G>A	XP_011531059.1:p.Arg445Gln
XM_011532757.2:c.1334G>A	XP_011531059.1:p.Arg445Gln
XM_011532758.1:c.2015G>A	XP_011531060.1:p.Arg672Gln
XM_011532759.1:c.455G>A	XP_011531061.1:p.Arg152Gln
XM_011532759.2:c.455G>A	XP_011531061.1:p.Arg152Gln
XM_011532760.1:c.80G>A	XP_011531062.1:p.Arg27Gln
XM_011532760.2:c.80G>A	XP_011531062.1:p.Arg27Gln
XM_017003790.1:c.1886G>A	XP_016859279.1:p.Arg629Gln
XM_017003791.1:c.1334G>A	XP_016859280.1:p.Arg445Gln
XM_017003792.1:c.2015G>A	XP_016859281.1:p.Arg672Gln
XM_017003793.1:c.152G>A	XP_016859282.1:p.Arg51Gln
XM_017003794.1:c.152G>A	XP_016859283.1:p.Arg51Gln
XM_017003795.1:c.-53G>A	XP_016859284.1:n.-53G>A
XR_001738698.1:n.2070G>A