Canonical Allele Identifier: CA335939

Gene: BBS9

Linked Data

• ClinVar Variation Id: 215977
• ClinVar RCV Id: RCV000195790 ; RCV001095142 ; RCV001818481
• dbSNP Id: rs61753527
• ExAC: 7:33644820 C / A
• gnomAD v2: 7-33644820-C-A
• gnomAD v3: 7-33605208-C-A
• gnomAD v4: 7-33605208-C-A
• MyVariant Identifiers: chr7:g.33644820C>A (hg19) ; chr7:g.33605208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33605208C>A , CM000669.2:g.33605208C>A	GRCh38
NC_000007.13:g.33644820C>A , CM000669.1:g.33644820C>A	GRCh37
NC_000007.12:g.33611345C>A	NCBI36
NG_009306.1:g.480669C>A
NG_009306.2:g.480965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.2646C>A MANE Select	ENSP00000242067.6:p.Leu882=
ENST00000671871.1:c.2769C>A	ENSP00000499908.1:p.Leu923=
ENST00000671890.1:c.2511C>A	ENSP00000500146.1:p.Leu837=
ENST00000671952.1:c.2522-29969C>A	ENSP00000500239.1:n.2522-29969C>A
ENST00000671963.1:c.2280C>A	ENSP00000499904.1:p.Leu760=
ENST00000672453.1:n.2401+233C>A
ENST00000672717.1:c.2541C>A	ENSP00000499835.1:p.Leu847=
ENST00000672758.1:n.190+233C>A
ENST00000672973.1:c.*206C>A	ENSP00000500017.1:n.*206C>A
ENST00000673056.1:c.2632+233C>A	ENSP00000499989.1:n.2632+233C>A
ENST00000673219.1:c.*2383C>A	ENSP00000499968.1:n.*2383C>A
ENST00000673230.1:n.2677C>A
ENST00000673462.1:c.*1392C>A	ENSP00000499848.1:n.*1392C>A
ENST00000242067.10:c.2646C>A	ENSP00000242067.6:p.Leu882=
ENST00000350941.7:c.2526C>A	ENSP00000313122.6:p.Leu842=
ENST00000355070.6:c.2631C>A	ENSP00000347182.2:p.Leu877=
ENST00000396127.6:c.2541C>A	ENSP00000379433.2:p.Leu847=
ENST00000433714.5:c.*1407C>A	ENSP00000412159.1:n.*1407C>A
ENST00000434373.3:c.1564C>A
NM_001033604.1:c.2541C>A	NP_001028776.1:p.Leu847=
NM_001033605.1:c.2631C>A	NP_001028777.1:p.Leu877=
NM_014451.3:c.2526C>A	NP_055266.2:p.Leu842=
NM_198428.2:c.2646C>A	NP_940820.1:p.Leu882=
XM_005249700.3:c.2643C>A	XP_005249757.1:p.Leu881=
XM_011515264.1:c.2632+233C>A	XP_011513566.1:n.2632+233C>A
XM_011515265.1:c.2632+233C>A	XP_011513567.1:n.2632+233C>A
XM_011515266.1:c.2617+233C>A	XP_011513568.1:n.2617+233C>A
XM_011515267.1:c.2527+233C>A	XP_011513569.1:n.2527+233C>A
XM_011515268.1:c.2522-29969C>A	XP_011513570.1:n.2522-29969C>A
XM_011515269.1:c.2359+233C>A	XP_011513571.1:n.2359+233C>A
NM_001348036.1:c.2646C>A	NP_001334965.1:p.Leu882=
NM_001348037.2:c.2097C>A	NP_001334966.1:p.Leu699=
NM_001348038.2:c.2373C>A	NP_001334967.1:p.Leu791=
NM_001348039.2:c.2268C>A	NP_001334968.1:p.Leu756=
NM_001348040.2:c.2523C>A	NP_001334969.1:p.Leu841=
NM_001348041.3:c.2632+233C>A	NP_001334970.1:n.2632+233C>A
NM_001348042.2:c.2511C>A	NP_001334971.1:p.Leu837=
NM_001348043.2:c.2643C>A	NP_001334972.1:p.Leu881=
NM_001348044.2:c.2175C>A	NP_001334973.1:p.Leu725=
NM_001348045.2:c.2280C>A	NP_001334974.1:p.Leu760=
NM_001348046.2:c.2280C>A	NP_001334975.1:p.Leu760=
NM_001362679.1:c.2522-29969C>A	NP_001349608.1:n.2522-29969C>A
NR_145411.1:n.3004C>A
NR_145412.1:n.3117C>A
NR_145413.2:n.3303C>A
XM_011515265.2:c.2632+233C>A	XP_011513567.1:n.2632+233C>A
XM_011515266.3:c.2617+233C>A	XP_011513568.1:n.2617+233C>A
XM_011515267.3:c.2527+233C>A	XP_011513569.1:n.2527+233C>A
XM_011515269.2:c.2359+233C>A	XP_011513571.1:n.2359+233C>A
XM_017011990.1:c.2617+233C>A	XP_016867479.1:n.2617+233C>A
NM_001348040.3:c.2523C>A	NP_001334969.1:p.Leu841=
NM_001348041.4:c.2632+233C>A	NP_001334970.1:n.2632+233C>A
NM_001348043.3:c.2643C>A	NP_001334972.1:p.Leu881=
NM_198428.3:c.2646C>A MANE Select	NP_940820.1:p.Leu882=
NM_001033604.2:c.2541C>A	NP_001028776.1:p.Leu847=
NM_001033605.2:c.2631C>A	NP_001028777.1:p.Leu877=
NM_001348037.3:c.2097C>A	NP_001334966.1:p.Leu699=
NM_001348038.3:c.2373C>A	NP_001334967.1:p.Leu791=
NM_001348039.3:c.2268C>A	NP_001334968.1:p.Leu756=
NM_001348042.3:c.2511C>A	NP_001334971.1:p.Leu837=
NM_001348044.3:c.2175C>A	NP_001334973.1:p.Leu725=
NM_001348045.3:c.2280C>A	NP_001334974.1:p.Leu760=
NM_001348046.3:c.2280C>A	NP_001334975.1:p.Leu760=
NM_014451.4:c.2526C>A	NP_055266.2:p.Leu842=
NR_145413.3:n.3279C>A