Canonical Allele Identifier: CA10629111

Gene: BBS9

Linked Data

• ClinVar Variation Id: 360066
• ClinVar RCV Id: RCV000361619 ; RCV002058665
• dbSNP Id: rs886062287
• MyVariant Identifiers: chr7:g.33423411C>A (hg19) ; chr7:g.33383799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33383799C>A , CM000669.2:g.33383799C>A	GRCh38
NC_000007.13:g.33423411C>A , CM000669.1:g.33423411C>A	GRCh37
NC_000007.12:g.33389936C>A	NCBI36
NG_009306.1:g.259260C>A
NG_009306.2:g.259556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1923C>A MANE Select	ENSP00000242067.6:p.Pro641=
ENST00000671871.1:c.2046C>A	ENSP00000499908.1:p.Pro682=
ENST00000671890.1:c.1788C>A	ENSP00000500146.1:p.Pro596=
ENST00000671952.1:c.1923C>A	ENSP00000500239.1:p.Pro641=
ENST00000671963.1:c.1557C>A	ENSP00000499904.1:p.Pro519=
ENST00000672453.1:n.1692C>A
ENST00000672717.1:c.1818C>A	ENSP00000499835.1:p.Pro606=
ENST00000672973.1:c.1923C>A	ENSP00000500017.1:p.Pro641=
ENST00000673056.1:c.1923C>A	ENSP00000499989.1:p.Pro641=
ENST00000673219.1:c.*1660C>A	ENSP00000499968.1:n.*1660C>A
ENST00000673230.1:n.1954C>A
ENST00000673431.1:c.1788C>A	ENSP00000500552.1:p.Pro596=
ENST00000673462.1:c.*669C>A	ENSP00000499848.1:n.*669C>A
ENST00000242067.10:c.1923C>A	ENSP00000242067.6:p.Pro641=
ENST00000350941.7:c.1803C>A	ENSP00000313122.6:p.Pro601=
ENST00000355070.6:c.1908C>A	ENSP00000347182.2:p.Pro636=
ENST00000396127.6:c.1818C>A	ENSP00000379433.2:p.Pro606=
ENST00000433714.5:c.*684C>A	ENSP00000412159.1:n.*684C>A
ENST00000434373.3:c.622C>A
ENST00000496029.1:n.46C>A
ENST00000627264.1:c.494C>A
NM_001033604.1:c.1818C>A	NP_001028776.1:p.Pro606=
NM_001033605.1:c.1908C>A	NP_001028777.1:p.Pro636=
NM_014451.3:c.1803C>A	NP_055266.2:p.Pro601=
NM_198428.2:c.1923C>A	NP_940820.1:p.Pro641=
XM_005249700.3:c.1923C>A	XP_005249757.1:p.Pro641=
XM_005249701.1:c.1923C>A	XP_005249758.1:p.Pro641=
XM_011515264.1:c.1923C>A	XP_011513566.1:p.Pro641=
XM_011515265.1:c.1923C>A	XP_011513567.1:p.Pro641=
XM_011515266.1:c.1908C>A	XP_011513568.1:p.Pro636=
XM_011515267.1:c.1818C>A	XP_011513569.1:p.Pro606=
XM_011515268.1:c.1923C>A	XP_011513570.1:p.Pro641=
XM_011515269.1:c.1650C>A	XP_011513571.1:p.Pro550=
XM_011515270.1:c.1923C>A	XP_011513572.1:p.Pro641=
NM_001348036.1:c.1923C>A	NP_001334965.1:p.Pro641=
NM_001348037.2:c.1557C>A	NP_001334966.1:p.Pro519=
NM_001348038.2:c.1650C>A	NP_001334967.1:p.Pro550=
NM_001348039.2:c.1545C>A	NP_001334968.1:p.Pro515=
NM_001348040.2:c.1803C>A	NP_001334969.1:p.Pro601=
NM_001348041.3:c.1923C>A	NP_001334970.1:p.Pro641=
NM_001348042.2:c.1788C>A	NP_001334971.1:p.Pro596=
NM_001348043.2:c.1923C>A	NP_001334972.1:p.Pro641=
NM_001348044.2:c.1452C>A	NP_001334973.1:p.Pro484=
NM_001348045.2:c.1557C>A	NP_001334974.1:p.Pro519=
NM_001348046.2:c.1557C>A	NP_001334975.1:p.Pro519=
NM_001362679.1:c.1923C>A	NP_001349608.1:p.Pro641=
NR_145411.1:n.2202C>A
NR_145412.1:n.2394C>A
NR_145413.2:n.2580C>A
XM_005249701.3:c.1923C>A	XP_005249758.1:p.Pro641=
XM_011515265.2:c.1923C>A	XP_011513567.1:p.Pro641=
XM_011515266.3:c.1908C>A	XP_011513568.1:p.Pro636=
XM_011515267.3:c.1818C>A	XP_011513569.1:p.Pro606=
XM_011515269.2:c.1650C>A	XP_011513571.1:p.Pro550=
XM_011515270.3:c.1923C>A	XP_011513572.1:p.Pro641=
XM_017011990.1:c.1908C>A	XP_016867479.1:p.Pro636=
NM_001348040.3:c.1803C>A	NP_001334969.1:p.Pro601=
NM_001348041.4:c.1923C>A	NP_001334970.1:p.Pro641=
NM_001348043.3:c.1923C>A	NP_001334972.1:p.Pro641=
NM_198428.3:c.1923C>A MANE Select	NP_940820.1:p.Pro641=
NM_001033604.2:c.1818C>A	NP_001028776.1:p.Pro606=
NM_001033605.2:c.1908C>A	NP_001028777.1:p.Pro636=
NM_001348037.3:c.1557C>A	NP_001334966.1:p.Pro519=
NM_001348038.3:c.1650C>A	NP_001334967.1:p.Pro550=
NM_001348039.3:c.1545C>A	NP_001334968.1:p.Pro515=
NM_001348042.3:c.1788C>A	NP_001334971.1:p.Pro596=
NM_001348044.3:c.1452C>A	NP_001334973.1:p.Pro484=
NM_001348045.3:c.1557C>A	NP_001334974.1:p.Pro519=
NM_001348046.3:c.1557C>A	NP_001334975.1:p.Pro519=
NM_014451.4:c.1803C>A	NP_055266.2:p.Pro601=
NR_145413.3:n.2556C>A