Canonical Allele Identifier: CA1579843
Community Standard Title: NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27453511C>A , CM000664.2:g.27453511C>A GRCh38
NC_000002.11:g.27676378C>A , CM000664.1:g.27676378C>A GRCh37
NC_000002.10:g.27529882C>A NCBI36
NG_034068.1:g.41301G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.3824G>T MANE Select NP_056477.1:p.Gly1275Val
ENST00000260570.8:c.3824G>T MANE Select ENSP00000260570.3:p.Gly1275Val
NM_015662.2:c.3824G>T NP_056477.1:p.Gly1275Val
ENST00000260570.7:c.3824G>T ENSP00000260570.3:p.Gly1275Val
ENST00000443889.1:c.429G>T
ENST00000450564.1:c.156G>T ENSP00000399017.1:p.Gly52=
ENST00000475909.1:n.142G>T
ENST00000507184.5:n.4105G>T
ENST00000509128.5:c.219G>T
ENST00000674701.1:c.*3337G>T ENSP00000502275.1:n.*3337G>T
ENST00000674824.1:c.*2272G>T ENSP00000501824.1:n.*2272G>T
ENST00000674932.1:c.*4270G>T ENSP00000501967.1:n.*4270G>T
ENST00000675410.1:c.*1695G>T ENSP00000502030.1:n.*1695G>T
ENST00000675690.1:c.3758G>T ENSP00000502283.1:p.Gly1253Val
ENST00000676119.1:c.*3114G>T ENSP00000501701.1:n.*3114G>T
XM_005264254.1:c.3758G>T XP_005264311.1:p.Gly1253Val
XM_006711986.2:c.3761G>T XP_006712049.1:p.Gly1254Val
XM_006711986.3:c.3761G>T XP_006712049.1:p.Gly1254Val
XM_006711987.1:c.3824G>T XP_006712050.1:p.Gly1275Val
XM_011532757.1:c.3143G>T XP_011531059.1:p.Gly1048Val
XM_011532757.2:c.3143G>T XP_011531059.1:p.Gly1048Val
XM_011532758.1:c.3824G>T XP_011531060.1:p.Gly1275Val
XM_011532759.1:c.2264G>T XP_011531061.1:p.Gly755Val
XM_011532759.2:c.2264G>T XP_011531061.1:p.Gly755Val
XM_011532760.1:c.1889G>T XP_011531062.1:p.Gly630Val
XM_011532760.2:c.1889G>T XP_011531062.1:p.Gly630Val
XM_017003790.1:c.3695G>T XP_016859279.1:p.Gly1232Val
XM_017003791.1:c.3143G>T XP_016859280.1:p.Gly1048Val
XM_017003792.1:c.3714G>T XP_016859281.1:p.Gly1238=
XM_017003793.1:c.1961G>T XP_016859282.1:p.Gly654Val
XM_017003794.1:c.1961G>T XP_016859283.1:p.Gly654Val
XM_017003795.1:c.1757G>T XP_016859284.1:p.Gly586Val
XR_001738698.1:n.3769G>T