Canonical Allele Identifier: CA246509294
Gene: IFT88 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20574472C>T , CM000675.2:g.20574472C>T GRCh38
NC_000013.10:g.21148611C>T , CM000675.1:g.21148611C>T GRCh37
NC_000013.9:g.20046611C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351808.10:c.87C>T MANE Select ENSP00000261632.5:p.Ile29=
ENST00000319980.10:c.114C>T ENSP00000323580.6:p.Ile38=
ENST00000351808.9:c.87C>T ENSP00000261632.5:p.Ile29=
ENST00000389373.3:c.87C>T ENSP00000374024.3:p.Ile29=
NM_006531.3:c.87C>T NP_006522.2:p.Ile29=
NM_175605.3:c.114C>T NP_783195.2:p.Ile38=
XM_005266546.2:c.258C>T XP_005266603.1:p.Ile86=
XM_005266547.2:c.258C>T XP_005266604.1:p.Ile86=
XM_005266548.2:c.258C>T XP_005266605.1:p.Ile86=
XM_005266549.2:c.258C>T XP_005266606.1:p.Ile86=
XM_005266550.2:c.147C>T XP_005266607.1:p.Ile49=
XM_005266551.1:c.258C>T XP_005266608.1:p.Ile86=
XM_005266552.1:c.258C>T XP_005266609.1:p.Ile86=
XM_005266553.2:c.114C>T XP_005266610.1:p.Ile38=
XM_005266555.2:c.87C>T XP_005266612.1:p.Ile29=
XM_006719870.2:c.87C>T XP_006719933.1:p.Ile29=
XM_011535240.1:c.249C>T XP_011533542.1:p.Ile83=
XM_011535241.1:c.114C>T XP_011533543.1:p.Ile38=
XM_011535242.1:c.87C>T XP_011533544.1:p.Ile29=
XM_011535243.1:c.87C>T XP_011533545.1:p.Ile29=
XM_011535244.1:c.87C>T XP_011533546.1:p.Ile29=
XM_011535245.1:c.258C>T XP_011533547.1:p.Ile86=
XM_011535246.1:c.258C>T XP_011533548.1:p.Ile86=
XR_245399.1:n.1091C>T
XR_941663.1:n.425C>T
NM_001318491.1:c.87C>T NP_001305420.1:p.Ile29=
NM_001318493.1:c.114C>T NP_001305422.1:p.Ile38=
NM_001353565.1:c.114C>T NP_001340494.1:p.Ile38=
NM_001353566.1:c.114C>T NP_001340495.1:p.Ile38=
NM_001353567.1:c.114C>T NP_001340496.1:p.Ile38=
NM_001353568.1:c.87C>T NP_001340497.1:p.Ile29=
NM_001353569.1:c.114C>T NP_001340498.1:p.Ile38=
NM_001353570.1:c.114C>T NP_001340499.1:p.Ile38=
NM_001353571.1:c.87C>T NP_001340500.1:p.Ile29=
NM_001353572.1:c.87C>T NP_001340501.1:p.Ile29=
NM_001353573.1:c.87C>T NP_001340502.1:p.Ile29=
NM_001353574.1:c.87C>T NP_001340503.1:p.Ile29=
NM_001353575.1:c.87C>T NP_001340504.1:p.Ile29=
NM_001353576.1:c.114C>T NP_001340505.1:p.Ile38=
NM_001353577.1:c.114C>T NP_001340506.1:p.Ile38=
NM_001353578.1:c.87C>T NP_001340507.1:p.Ile29=
NM_001353579.1:c.-477C>T NP_001340508.1:n.-477C>T
NM_006531.4:c.87C>T NP_006522.2:p.Ile29=
NM_175605.4:c.114C>T NP_783195.2:p.Ile38=
NR_134653.1:n.862C>T
NR_148462.1:n.763C>T
NR_148463.1:n.754C>T
NR_148464.1:n.534C>T
NR_148465.1:n.534C>T
XM_006719870.3:c.87C>T XP_006719933.1:p.Ile29=
XM_017020757.1:c.87C>T XP_016876246.1:p.Ile29=
XM_017020758.1:c.114C>T XP_016876247.1:p.Ile38=
XM_017020759.1:c.114C>T XP_016876248.1:p.Ile38=
XM_017020762.1:c.114C>T XP_016876251.1:p.Ile38=
XM_017020763.1:c.114C>T XP_016876252.1:p.Ile38=
XM_017020768.1:c.114C>T XP_016876257.1:p.Ile38=
XM_017020773.1:c.87C>T XP_016876262.1:p.Ile29=
XM_017020775.1:c.114C>T XP_016876264.1:p.Ile38=
XM_017020776.1:c.114C>T XP_016876265.1:p.Ile38=
XM_024449411.1:c.114C>T XP_024305179.1:p.Ile38=
XM_024449412.1:c.114C>T XP_024305180.1:p.Ile38=
XM_024449413.1:c.114C>T XP_024305181.1:p.Ile38=
XM_024449414.1:c.114C>T XP_024305182.1:p.Ile38=
XM_024449415.1:c.114C>T XP_024305183.1:p.Ile38=
XR_001749682.1:n.795C>T
XR_001749683.1:n.795C>T
XR_001749686.1:n.795C>T
XR_002957474.1:n.795C>T
NM_001318491.2:c.87C>T NP_001305420.1:p.Ile29=
NM_001318493.2:c.114C>T NP_001305422.1:p.Ile38=
NM_001353565.2:c.114C>T NP_001340494.1:p.Ile38=
NM_001353566.2:c.114C>T NP_001340495.1:p.Ile38=
NM_001353567.2:c.114C>T NP_001340496.1:p.Ile38=
NM_001353568.2:c.87C>T NP_001340497.1:p.Ile29=
NM_001353569.2:c.114C>T NP_001340498.1:p.Ile38=
NM_001353570.2:c.114C>T NP_001340499.1:p.Ile38=
NM_001353571.2:c.87C>T NP_001340500.1:p.Ile29=
NM_001353572.2:c.87C>T NP_001340501.1:p.Ile29=
NM_001353573.2:c.87C>T NP_001340502.1:p.Ile29=
NM_001353574.2:c.87C>T NP_001340503.1:p.Ile29=
NM_001353575.2:c.87C>T NP_001340504.1:p.Ile29=
NM_001353576.2:c.114C>T NP_001340505.1:p.Ile38=
NM_001353577.2:c.114C>T NP_001340506.1:p.Ile38=
NM_001353578.2:c.87C>T NP_001340507.1:p.Ile29=
NM_001353579.2:c.-477C>T NP_001340508.1:n.-477C>T
NM_006531.5:c.87C>T MANE Select NP_006522.2:p.Ile29=
NM_175605.5:c.114C>T NP_783195.2:p.Ile38=
NR_134653.2:n.521C>T
NR_148462.2:n.422C>T
NR_148463.2:n.413C>T
NR_148464.2:n.193C>T
NR_148465.2:n.193C>T