Canonical Allele Identifier: CA387476643

Gene: IFT88

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20663516G>C , CM000675.2:g.20663516G>C	GRCh38
NC_000013.10:g.21237655G>C , CM000675.1:g.21237655G>C	GRCh37
NC_000013.9:g.20135655G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351808.10:c.2087G>C MANE Select	ENSP00000261632.5:p.Arg696Pro
ENST00000319980.10:c.2114G>C	ENSP00000323580.6:p.Arg705Pro
ENST00000351808.9:c.2087G>C	ENSP00000261632.5:p.Arg696Pro
ENST00000470695.1:n.252G>C
ENST00000482172.5:n.538G>C
NM_006531.3:c.2087G>C	NP_006522.2:p.Arg696Pro
NM_175605.3:c.2114G>C	NP_783195.2:p.Arg705Pro
XM_005266546.2:c.2258G>C	XP_005266603.1:p.Arg753Pro
XM_005266547.2:c.2201G>C	XP_005266604.1:p.Arg734Pro
XM_005266548.2:c.2171G>C	XP_005266605.1:p.Arg724Pro
XM_005266549.2:c.2156G>C	XP_005266606.1:p.Arg719Pro
XM_005266550.2:c.2147G>C	XP_005266607.1:p.Arg716Pro
XM_005266551.1:c.2258G>C	XP_005266608.1:p.Arg753Pro
XM_005266552.1:c.2382G>C	XP_005266609.1:p.Ser794=
XM_005266553.2:c.2114G>C	XP_005266610.1:p.Arg705Pro
XM_005266555.2:c.2030G>C	XP_005266612.1:p.Arg677Pro
XM_006719870.2:c.2087G>C	XP_006719933.1:p.Arg696Pro
XM_011535240.1:c.2249G>C	XP_011533542.1:p.Arg750Pro
XM_011535241.1:c.2114G>C	XP_011533543.1:p.Arg705Pro
XM_011535242.1:c.2087G>C	XP_011533544.1:p.Arg696Pro
XM_011535243.1:c.2087G>C	XP_011533545.1:p.Arg696Pro
XM_011535244.1:c.2087G>C	XP_011533546.1:p.Arg696Pro
XR_245399.1:n.3215G>C
XR_941663.1:n.2587G>C
NM_001318491.1:c.2030G>C	NP_001305420.1:p.Arg677Pro
NM_001318493.1:c.2114G>C	NP_001305422.1:p.Arg705Pro
NM_001353565.1:c.2114G>C	NP_001340494.1:p.Arg705Pro
NM_001353566.1:c.2114G>C	NP_001340495.1:p.Arg705Pro
NM_001353567.1:c.2114G>C	NP_001340496.1:p.Arg705Pro
NM_001353568.1:c.2087G>C	NP_001340497.1:p.Arg696Pro
NM_001353569.1:c.2012G>C	NP_001340498.1:p.Arg671Pro
NM_001353570.1:c.2012G>C	NP_001340499.1:p.Arg671Pro
NM_001353571.1:c.1985G>C	NP_001340500.1:p.Arg662Pro
NM_001353572.1:c.2087G>C	NP_001340501.1:p.Arg696Pro
NM_001353573.1:c.1943G>C	NP_001340502.1:p.Arg648Pro
NM_001353574.1:c.1928G>C	NP_001340503.1:p.Arg643Pro
NM_001353575.1:c.2154G>C	NP_001340504.1:p.Ser718=
NM_001353576.1:c.2012G>C	NP_001340505.1:p.Arg671Pro
NM_001353577.1:c.2012G>C	NP_001340506.1:p.Arg671Pro
NM_001353578.1:c.1985G>C	NP_001340507.1:p.Arg662Pro
NM_001353579.1:c.1454G>C	NP_001340508.1:p.Arg485Pro
NM_006531.4:c.2087G>C	NP_006522.2:p.Arg696Pro
NM_175605.4:c.2114G>C	NP_783195.2:p.Arg705Pro
NR_134653.1:n.2986G>C
NR_148462.1:n.2925G>C
NR_148463.1:n.2919G>C
NR_148464.1:n.2658G>C
NR_148465.1:n.2038G>C
XM_006719870.3:c.2087G>C	XP_006719933.1:p.Arg696Pro
XM_017020757.1:c.2087G>C	XP_016876246.1:p.Arg696Pro
XM_017020758.1:c.2057G>C	XP_016876247.1:p.Arg686Pro
XM_017020759.1:c.2027G>C	XP_016876248.1:p.Arg676Pro
XM_017020762.1:c.2114G>C	XP_016876251.1:p.Arg705Pro
XM_017020763.1:c.2238G>C	XP_016876252.1:p.Ser746=
XM_017020768.1:c.1925G>C	XP_016876257.1:p.Arg642Pro
XM_017020773.1:c.2052G>C	XP_016876262.1:p.Ser684=
XM_024449411.1:c.2012G>C	XP_024305179.1:p.Arg671Pro
XM_024449412.1:c.1970G>C	XP_024305180.1:p.Arg657Pro
XM_024449413.1:c.1955G>C	XP_024305181.1:p.Arg652Pro
XM_024449414.1:c.2012G>C	XP_024305182.1:p.Arg671Pro
XR_001749682.1:n.2232G>C
XR_001749683.1:n.2232G>C
XR_001749686.1:n.2212G>C
XR_002957474.1:n.2862G>C
NM_001318491.2:c.2030G>C	NP_001305420.1:p.Arg677Pro
NM_001318493.2:c.2114G>C	NP_001305422.1:p.Arg705Pro
NM_001353565.2:c.2114G>C	NP_001340494.1:p.Arg705Pro
NM_001353566.2:c.2114G>C	NP_001340495.1:p.Arg705Pro
NM_001353567.2:c.2114G>C	NP_001340496.1:p.Arg705Pro
NM_001353568.2:c.2087G>C	NP_001340497.1:p.Arg696Pro
NM_001353569.2:c.2012G>C	NP_001340498.1:p.Arg671Pro
NM_001353570.2:c.2012G>C	NP_001340499.1:p.Arg671Pro
NM_001353571.2:c.1985G>C	NP_001340500.1:p.Arg662Pro
NM_001353572.2:c.2087G>C	NP_001340501.1:p.Arg696Pro
NM_001353573.2:c.1943G>C	NP_001340502.1:p.Arg648Pro
NM_001353574.2:c.1928G>C	NP_001340503.1:p.Arg643Pro
NM_001353575.2:c.2154G>C	NP_001340504.1:p.Ser718=
NM_001353576.2:c.2012G>C	NP_001340505.1:p.Arg671Pro
NM_001353577.2:c.2012G>C	NP_001340506.1:p.Arg671Pro
NM_001353578.2:c.1985G>C	NP_001340507.1:p.Arg662Pro
NM_001353579.2:c.1454G>C	NP_001340508.1:p.Arg485Pro
NM_006531.5:c.2087G>C MANE Select	NP_006522.2:p.Arg696Pro
NM_175605.5:c.2114G>C	NP_783195.2:p.Arg705Pro
NR_134653.2:n.2645G>C
NR_148462.2:n.2584G>C
NR_148463.2:n.2578G>C
NR_148464.2:n.2317G>C
NR_148465.2:n.1697G>C