Canonical Allele Identifier: CA346422277
Community Standard Title: NM_015662.3(IFT172):c.4051-1G>A
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27449801C>T , CM000664.2:g.27449801C>T GRCh38
NC_000002.11:g.27672668C>T , CM000664.1:g.27672668C>T GRCh37
NC_000002.10:g.27526172C>T NCBI36
NG_034068.1:g.45011G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.4051-1G>A MANE Select NP_056477.1:n.4051-1G>A
ENST00000260570.8:c.4051-1G>A MANE Select ENSP00000260570.3:n.4051-1G>A
NM_015662.2:c.4051-1G>A NP_056477.1:n.4051-1G>A
ENST00000260570.7:c.4051-1G>A ENSP00000260570.3:n.4051-1G>A
ENST00000450564.1:c.383-1G>A ENSP00000399017.1:n.383-1G>A
ENST00000507184.5:n.4332-1G>A
ENST00000509128.5:c.446-1G>A
ENST00000674594.1:n.663-1G>A
ENST00000674701.1:c.*3564-1G>A ENSP00000502275.1:n.*3564-1G>A
ENST00000674824.1:c.*2499-1G>A ENSP00000501824.1:n.*2499-1G>A
ENST00000674932.1:c.*4497-1G>A ENSP00000501967.1:n.*4497-1G>A
ENST00000675410.1:c.*1922-1G>A ENSP00000502030.1:n.*1922-1G>A
ENST00000675690.1:c.3985-1G>A ENSP00000502283.1:n.3985-1G>A
ENST00000676119.1:c.*3341-1G>A ENSP00000501701.1:n.*3341-1G>A
XM_005264254.1:c.3985-1G>A XP_005264311.1:n.3985-1G>A
XM_006711986.2:c.3988-1G>A XP_006712049.1:n.3988-1G>A
XM_006711986.3:c.3988-1G>A XP_006712049.1:n.3988-1G>A
XM_006711987.1:c.4051-1G>A XP_006712050.1:n.4051-1G>A
XM_011532757.1:c.3370-1G>A XP_011531059.1:n.3370-1G>A
XM_011532757.2:c.3370-1G>A XP_011531059.1:n.3370-1G>A
XM_011532759.1:c.2491-1G>A XP_011531061.1:n.2491-1G>A
XM_011532759.2:c.2491-1G>A XP_011531061.1:n.2491-1G>A
XM_011532760.1:c.2116-1G>A XP_011531062.1:n.2116-1G>A
XM_011532760.2:c.2116-1G>A XP_011531062.1:n.2116-1G>A
XM_017003790.1:c.3922-1G>A XP_016859279.1:n.3922-1G>A
XM_017003791.1:c.3370-1G>A XP_016859280.1:n.3370-1G>A
XM_017003793.1:c.2188-1G>A XP_016859282.1:n.2188-1G>A
XM_017003794.1:c.2188-1G>A XP_016859283.1:n.2188-1G>A
XM_017003795.1:c.1984-1G>A XP_016859284.1:n.1984-1G>A
XR_001738698.1:n.3996-1G>A