Canonical Allele Identifier: CA252388
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2660
dbSNP Id: rs137852858
gnomAD v4: 7-33336487-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33336487C>T , CM000669.2:g.33336487C>T GRCh38
NC_000007.13:g.33376099C>T , CM000669.1:g.33376099C>T GRCh37
NC_000007.12:g.33342624C>T NCBI36
NG_009306.1:g.211948C>T
NG_009306.2:g.212244C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242067.11:c.1063C>T MANE Select ENSP00000242067.6:p.Gln355Ter
ENST00000671871.1:c.1186C>T ENSP00000499908.1:p.Gln396Ter
ENST00000671890.1:c.928C>T ENSP00000500146.1:p.Gln310Ter
ENST00000671952.1:c.1063C>T ENSP00000500239.1:p.Gln355Ter
ENST00000671963.1:c.697C>T ENSP00000499904.1:p.Gln233Ter
ENST00000672453.1:n.832C>T
ENST00000672717.1:c.1063C>T ENSP00000499835.1:p.Gln355Ter
ENST00000672973.1:c.1063C>T ENSP00000500017.1:p.Gln355Ter
ENST00000673056.1:c.1063C>T ENSP00000499989.1:p.Gln355Ter
ENST00000673219.1:c.*800C>T ENSP00000499968.1:n.*800C>T
ENST00000673230.1:n.1094C>T
ENST00000673431.1:c.928C>T ENSP00000500552.1:p.Gln310Ter
ENST00000673462.1:c.1063C>T ENSP00000499848.1:p.Gln355Ter
ENST00000242067.10:c.1063C>T ENSP00000242067.6:p.Gln355Ter
ENST00000350941.7:c.1063C>T ENSP00000313122.6:p.Gln355Ter
ENST00000355070.6:c.1063C>T ENSP00000347182.2:p.Gln355Ter
ENST00000396127.6:c.1063C>T ENSP00000379433.2:p.Gln355Ter
ENST00000433714.5:c.1063C>T ENSP00000412159.1:p.Gln355Ter
NM_001033604.1:c.1063C>T NP_001028776.1:p.Gln355Ter
NM_001033605.1:c.1063C>T NP_001028777.1:p.Gln355Ter
NM_014451.3:c.1063C>T NP_055266.2:p.Gln355Ter
NM_198428.2:c.1063C>T NP_940820.1:p.Gln355Ter
XM_005249700.3:c.1063C>T XP_005249757.1:p.Gln355Ter
XM_005249701.1:c.1063C>T XP_005249758.1:p.Gln355Ter
XM_011515264.1:c.1063C>T XP_011513566.1:p.Gln355Ter
XM_011515265.1:c.1063C>T XP_011513567.1:p.Gln355Ter
XM_011515266.1:c.1063C>T XP_011513568.1:p.Gln355Ter
XM_011515267.1:c.1063C>T XP_011513569.1:p.Gln355Ter
XM_011515268.1:c.1063C>T XP_011513570.1:p.Gln355Ter
XM_011515269.1:c.790C>T XP_011513571.1:p.Gln264Ter
XM_011515270.1:c.1063C>T XP_011513572.1:p.Gln355Ter
NM_001348036.1:c.1063C>T NP_001334965.1:p.Gln355Ter
NM_001348037.2:c.697C>T NP_001334966.1:p.Gln233Ter
NM_001348038.2:c.790C>T NP_001334967.1:p.Gln264Ter
NM_001348039.2:c.790C>T NP_001334968.1:p.Gln264Ter
NM_001348040.2:c.1063C>T NP_001334969.1:p.Gln355Ter
NM_001348041.3:c.1063C>T NP_001334970.1:p.Gln355Ter
NM_001348042.2:c.928C>T NP_001334971.1:p.Gln310Ter
NM_001348043.2:c.1063C>T NP_001334972.1:p.Gln355Ter
NM_001348044.2:c.697C>T NP_001334973.1:p.Gln233Ter
NM_001348045.2:c.697C>T NP_001334974.1:p.Gln233Ter
NM_001348046.2:c.697C>T NP_001334975.1:p.Gln233Ter
NM_001362679.1:c.1063C>T NP_001349608.1:p.Gln355Ter
NR_145411.1:n.1342C>T
NR_145412.1:n.1342C>T
NR_145413.2:n.1576C>T
XM_005249701.3:c.1063C>T XP_005249758.1:p.Gln355Ter
XM_011515265.2:c.1063C>T XP_011513567.1:p.Gln355Ter
XM_011515266.3:c.1063C>T XP_011513568.1:p.Gln355Ter
XM_011515267.3:c.1063C>T XP_011513569.1:p.Gln355Ter
XM_011515269.2:c.790C>T XP_011513571.1:p.Gln264Ter
XM_011515270.3:c.1063C>T XP_011513572.1:p.Gln355Ter
XM_017011990.1:c.1063C>T XP_016867479.1:p.Gln355Ter
XM_017011994.2:c.1063C>T XP_016867483.1:p.Gln355Ter
XR_001744634.2:n.1566C>T
NM_001348040.3:c.1063C>T NP_001334969.1:p.Gln355Ter
NM_001348041.4:c.1063C>T NP_001334970.1:p.Gln355Ter
NM_001348043.3:c.1063C>T NP_001334972.1:p.Gln355Ter
NM_198428.3:c.1063C>T MANE Select NP_940820.1:p.Gln355Ter
NM_001033604.2:c.1063C>T NP_001028776.1:p.Gln355Ter
NM_001033605.2:c.1063C>T NP_001028777.1:p.Gln355Ter
NM_001348037.3:c.697C>T NP_001334966.1:p.Gln233Ter
NM_001348038.3:c.790C>T NP_001334967.1:p.Gln264Ter
NM_001348039.3:c.790C>T NP_001334968.1:p.Gln264Ter
NM_001348042.3:c.928C>T NP_001334971.1:p.Gln310Ter
NM_001348044.3:c.697C>T NP_001334973.1:p.Gln233Ter
NM_001348045.3:c.697C>T NP_001334974.1:p.Gln233Ter
NM_001348046.3:c.697C>T NP_001334975.1:p.Gln233Ter
NM_014451.4:c.1063C>T NP_055266.2:p.Gln355Ter
NR_145413.3:n.1552C>T