Canonical Allele Identifier: CA1580166
Community Standard Title: NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27458790G>A , CM000664.2:g.27458790G>A GRCh38
NC_000002.11:g.27681657G>A , CM000664.1:g.27681657G>A GRCh37
NC_000002.10:g.27535161G>A NCBI36
NG_034068.1:g.36022C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.2866C>T MANE Select NP_056477.1:p.Gln956Ter
ENST00000260570.8:c.2866C>T MANE Select ENSP00000260570.3:p.Gln956Ter
NM_015662.2:c.2866C>T NP_056477.1:p.Gln956Ter
ENST00000260570.7:c.2866C>T ENSP00000260570.3:p.Gln956Ter
ENST00000476693.1:n.324C>T
ENST00000507184.5:n.2998C>T
ENST00000674701.1:c.*2039C>T ENSP00000502275.1:n.*2039C>T
ENST00000674824.1:c.*881C>T ENSP00000501824.1:n.*881C>T
ENST00000674932.1:c.*2972C>T ENSP00000501967.1:n.*2972C>T
ENST00000675410.1:c.*546C>T ENSP00000502030.1:n.*546C>T
ENST00000675690.1:c.2800C>T ENSP00000502283.1:p.Gln934Ter
ENST00000676119.1:c.*2156C>T ENSP00000501701.1:n.*2156C>T
XM_005264254.1:c.2800C>T XP_005264311.1:p.Gln934Ter
XM_006711986.2:c.2803C>T XP_006712049.1:p.Gln935Ter
XM_006711986.3:c.2803C>T XP_006712049.1:p.Gln935Ter
XM_006711987.1:c.2866C>T XP_006712050.1:p.Gln956Ter
XM_011532757.1:c.2185C>T XP_011531059.1:p.Gln729Ter
XM_011532757.2:c.2185C>T XP_011531059.1:p.Gln729Ter
XM_011532758.1:c.2866C>T XP_011531060.1:p.Gln956Ter
XM_011532759.1:c.1306C>T XP_011531061.1:p.Gln436Ter
XM_011532759.2:c.1306C>T XP_011531061.1:p.Gln436Ter
XM_011532760.1:c.931C>T XP_011531062.1:p.Gln311Ter
XM_011532760.2:c.931C>T XP_011531062.1:p.Gln311Ter
XM_017003790.1:c.2737C>T XP_016859279.1:p.Gln913Ter
XM_017003791.1:c.2185C>T XP_016859280.1:p.Gln729Ter
XM_017003792.1:c.2866C>T XP_016859281.1:p.Gln956Ter
XM_017003793.1:c.1003C>T XP_016859282.1:p.Gln335Ter
XM_017003794.1:c.1003C>T XP_016859283.1:p.Gln335Ter
XM_017003795.1:c.799C>T XP_016859284.1:p.Gln267Ter
XR_001738698.1:n.2921C>T