Canonical Allele Identifier: CA44489951
Community Standard Title: NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27453658C>A , CM000664.2:g.27453658C>A GRCh38
NC_000002.11:g.27676525C>A , CM000664.1:g.27676525C>A GRCh37
NC_000002.10:g.27530029C>A NCBI36
NG_034068.1:g.41154G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.3793G>T MANE Select NP_056477.1:p.Glu1265Ter
ENST00000260570.8:c.3793G>T MANE Select ENSP00000260570.3:p.Glu1265Ter
NM_015662.2:c.3793G>T NP_056477.1:p.Glu1265Ter
ENST00000260570.7:c.3793G>T ENSP00000260570.3:p.Glu1265Ter
ENST00000443889.1:c.398G>T
ENST00000450564.1:c.154-145G>T ENSP00000399017.1:n.154-145G>T
ENST00000475909.1:n.111G>T
ENST00000507184.5:n.4074G>T
ENST00000509128.5:c.188G>T
ENST00000674701.1:c.*3306G>T ENSP00000502275.1:n.*3306G>T
ENST00000674824.1:c.*2241G>T ENSP00000501824.1:n.*2241G>T
ENST00000674932.1:c.*4239G>T ENSP00000501967.1:n.*4239G>T
ENST00000675410.1:c.*1664G>T ENSP00000502030.1:n.*1664G>T
ENST00000675690.1:c.3727G>T ENSP00000502283.1:p.Glu1243Ter
ENST00000676119.1:c.*3083G>T ENSP00000501701.1:n.*3083G>T
XM_005264254.1:c.3727G>T XP_005264311.1:p.Glu1243Ter
XM_006711986.2:c.3730G>T XP_006712049.1:p.Glu1244Ter
XM_006711986.3:c.3730G>T XP_006712049.1:p.Glu1244Ter
XM_006711987.1:c.3793G>T XP_006712050.1:p.Glu1265Ter
XM_011532757.1:c.3112G>T XP_011531059.1:p.Glu1038Ter
XM_011532757.2:c.3112G>T XP_011531059.1:p.Glu1038Ter
XM_011532758.1:c.3793G>T XP_011531060.1:p.Glu1265Ter
XM_011532759.1:c.2233G>T XP_011531061.1:p.Glu745Ter
XM_011532759.2:c.2233G>T XP_011531061.1:p.Glu745Ter
XM_011532760.1:c.1858G>T XP_011531062.1:p.Glu620Ter
XM_011532760.2:c.1858G>T XP_011531062.1:p.Glu620Ter
XM_017003790.1:c.3664G>T XP_016859279.1:p.Glu1222Ter
XM_017003791.1:c.3112G>T XP_016859280.1:p.Glu1038Ter
XM_017003792.1:c.3712-145G>T XP_016859281.1:n.3712-145G>T
XM_017003793.1:c.1930G>T XP_016859282.1:p.Glu644Ter
XM_017003794.1:c.1930G>T XP_016859283.1:p.Glu644Ter
XM_017003795.1:c.1726G>T XP_016859284.1:p.Glu576Ter
XR_001738698.1:n.3767-145G>T