Canonical Allele Identifier: CA346377792
Community Standard Title: NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27453485G>A , CM000664.2:g.27453485G>A GRCh38
NC_000002.11:g.27676352G>A , CM000664.1:g.27676352G>A GRCh37
NC_000002.10:g.27529856G>A NCBI36
NG_034068.1:g.41327C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.3850C>T MANE Select NP_056477.1:p.Arg1284Ter
ENST00000260570.8:c.3850C>T MANE Select ENSP00000260570.3:p.Arg1284Ter
NM_015662.2:c.3850C>T NP_056477.1:p.Arg1284Ter
ENST00000260570.7:c.3850C>T ENSP00000260570.3:p.Arg1284Ter
ENST00000443889.1:c.455C>T
ENST00000450564.1:c.182C>T ENSP00000399017.1:p.Ser61Leu
ENST00000475909.1:n.168C>T
ENST00000507184.5:n.4131C>T
ENST00000509128.5:c.245C>T
ENST00000674701.1:c.*3363C>T ENSP00000502275.1:n.*3363C>T
ENST00000674824.1:c.*2298C>T ENSP00000501824.1:n.*2298C>T
ENST00000674932.1:c.*4296C>T ENSP00000501967.1:n.*4296C>T
ENST00000675410.1:c.*1721C>T ENSP00000502030.1:n.*1721C>T
ENST00000675690.1:c.3784C>T ENSP00000502283.1:p.Arg1262Ter
ENST00000676119.1:c.*3140C>T ENSP00000501701.1:n.*3140C>T
XM_005264254.1:c.3784C>T XP_005264311.1:p.Arg1262Ter
XM_006711986.2:c.3787C>T XP_006712049.1:p.Arg1263Ter
XM_006711986.3:c.3787C>T XP_006712049.1:p.Arg1263Ter
XM_006711987.1:c.3850C>T XP_006712050.1:p.Arg1284Ter
XM_011532757.1:c.3169C>T XP_011531059.1:p.Arg1057Ter
XM_011532757.2:c.3169C>T XP_011531059.1:p.Arg1057Ter
XM_011532758.1:c.3850C>T XP_011531060.1:p.Arg1284Ter
XM_011532759.1:c.2290C>T XP_011531061.1:p.Arg764Ter
XM_011532759.2:c.2290C>T XP_011531061.1:p.Arg764Ter
XM_011532760.1:c.1915C>T XP_011531062.1:p.Arg639Ter
XM_011532760.2:c.1915C>T XP_011531062.1:p.Arg639Ter
XM_017003790.1:c.3721C>T XP_016859279.1:p.Arg1241Ter
XM_017003791.1:c.3169C>T XP_016859280.1:p.Arg1057Ter
XM_017003792.1:c.3740C>T XP_016859281.1:p.Ser1247Leu
XM_017003793.1:c.1987C>T XP_016859282.1:p.Arg663Ter
XM_017003794.1:c.1987C>T XP_016859283.1:p.Arg663Ter
XM_017003795.1:c.1783C>T XP_016859284.1:p.Arg595Ter
XR_001738698.1:n.3795C>T