Canonical Allele Identifier: CA346397231
Gene: IFT172 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27480104C>A , CM000664.2:g.27480104C>A GRCh38
NC_000002.11:g.27702971C>A , CM000664.1:g.27702971C>A GRCh37
NC_000002.10:g.27556475C>A NCBI36
NG_034068.1:g.14708G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260570.8:c.831G>T MANE Select ENSP00000260570.3:p.Glu277Asp
ENST00000476264.7:n.1120G>T
ENST00000674701.1:c.831G>T ENSP00000502275.1:p.Glu277Asp
ENST00000674824.1:c.768G>T ENSP00000501824.1:p.Glu256Asp
ENST00000674932.1:c.*494G>T ENSP00000501967.1:n.*494G>T
ENST00000675410.1:c.150G>T ENSP00000502030.1:p.Glu50Asp
ENST00000675618.1:n.911G>T
ENST00000675690.1:c.831G>T ENSP00000502283.1:p.Glu277Asp
ENST00000675728.1:c.768G>T ENSP00000501700.1:p.Glu256Asp
ENST00000675729.1:c.831G>T ENSP00000502319.1:p.Glu277Asp
ENST00000675963.1:c.*529G>T ENSP00000502708.1:n.*529G>T
ENST00000676119.1:c.*121G>T ENSP00000501701.1:n.*121G>T
ENST00000676300.1:n.917G>T
ENST00000260570.7:c.831G>T ENSP00000260570.3:p.Glu277Asp
ENST00000359466.10:c.831G>T ENSP00000352443.6:p.Glu277Asp
ENST00000416524.2:c.768G>T ENSP00000407408.2:p.Glu256Asp
ENST00000476264.6:n.777G>T
ENST00000507184.5:n.963G>T
ENST00000511842.5:n.856G>T
NM_015662.2:c.831G>T NP_056477.1:p.Glu277Asp
XM_005264254.1:c.831G>T XP_005264311.1:p.Glu277Asp
XM_006711986.2:c.768G>T XP_006712049.1:p.Glu256Asp
XM_006711987.1:c.831G>T XP_006712050.1:p.Glu277Asp
XM_011532757.1:c.150G>T XP_011531059.1:p.Glu50Asp
XM_011532758.1:c.831G>T XP_011531060.1:p.Glu277Asp
XM_006711986.3:c.768G>T XP_006712049.1:p.Glu256Asp
XM_011532757.2:c.150G>T XP_011531059.1:p.Glu50Asp
XM_017003790.1:c.768G>T XP_016859279.1:p.Glu256Asp
XM_017003791.1:c.150G>T XP_016859280.1:p.Glu50Asp
XM_017003792.1:c.831G>T XP_016859281.1:p.Glu277Asp
XM_017003793.1:c.-620G>T XP_016859282.1:n.-620G>T
XM_017003794.1:c.-620G>T XP_016859283.1:n.-620G>T
XM_017003795.1:c.-992G>T XP_016859284.1:n.-992G>T
XR_001738698.1:n.886G>T
NM_015662.3:c.831G>T MANE Select NP_056477.1:p.Glu277Asp