Canonical Allele Identifier: CA346397181
Gene: IFT172 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27480094T>G , CM000664.2:g.27480094T>G GRCh38
NC_000002.11:g.27702961T>G , CM000664.1:g.27702961T>G GRCh37
NC_000002.10:g.27556465T>G NCBI36
NG_034068.1:g.14718A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260570.8:c.841A>C MANE Select ENSP00000260570.3:p.Lys281Gln
ENST00000476264.7:n.1130A>C
ENST00000674701.1:c.841A>C ENSP00000502275.1:p.Lys281Gln
ENST00000674824.1:c.778A>C ENSP00000501824.1:p.Lys260Gln
ENST00000674932.1:c.*504A>C ENSP00000501967.1:n.*504A>C
ENST00000675410.1:c.160A>C ENSP00000502030.1:p.Lys54Gln
ENST00000675618.1:n.921A>C
ENST00000675690.1:c.841A>C ENSP00000502283.1:p.Lys281Gln
ENST00000675728.1:c.778A>C ENSP00000501700.1:p.Lys260Gln
ENST00000675729.1:c.841A>C ENSP00000502319.1:p.Lys281Gln
ENST00000675963.1:c.*539A>C ENSP00000502708.1:n.*539A>C
ENST00000676119.1:c.*131A>C ENSP00000501701.1:n.*131A>C
ENST00000676300.1:n.927A>C
ENST00000260570.7:c.841A>C ENSP00000260570.3:p.Lys281Gln
ENST00000359466.10:c.841A>C ENSP00000352443.6:p.Lys281Gln
ENST00000416524.2:c.778A>C ENSP00000407408.2:p.Lys260Gln
ENST00000476264.6:n.787A>C
ENST00000507184.5:n.973A>C
ENST00000511842.5:n.866A>C
NM_015662.2:c.841A>C NP_056477.1:p.Lys281Gln
XM_005264254.1:c.841A>C XP_005264311.1:p.Lys281Gln
XM_006711986.2:c.778A>C XP_006712049.1:p.Lys260Gln
XM_006711987.1:c.841A>C XP_006712050.1:p.Lys281Gln
XM_011532757.1:c.160A>C XP_011531059.1:p.Lys54Gln
XM_011532758.1:c.841A>C XP_011531060.1:p.Lys281Gln
XM_006711986.3:c.778A>C XP_006712049.1:p.Lys260Gln
XM_011532757.2:c.160A>C XP_011531059.1:p.Lys54Gln
XM_017003790.1:c.778A>C XP_016859279.1:p.Lys260Gln
XM_017003791.1:c.160A>C XP_016859280.1:p.Lys54Gln
XM_017003792.1:c.841A>C XP_016859281.1:p.Lys281Gln
XM_017003793.1:c.-610A>C XP_016859282.1:n.-610A>C
XM_017003794.1:c.-610A>C XP_016859283.1:n.-610A>C
XM_017003795.1:c.-982A>C XP_016859284.1:n.-982A>C
XR_001738698.1:n.896A>C
NM_015662.3:c.841A>C MANE Select NP_056477.1:p.Lys281Gln