Canonical Allele Identifier: CA10588819

Gene: BBS9

Linked Data

• ClinVar Variation Id: 265771
• ClinVar RCV Id: RCV000256188 ; RCV002518770
• dbSNP Id: rs746797123
• gnomAD v4: 7-33367832-C-T
• MyVariant Identifiers: chr7:g.33407444C>T (hg19) ; chr7:g.33367832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33367832C>T , CM000669.2:g.33367832C>T	GRCh38
NC_000007.13:g.33407444C>T , CM000669.1:g.33407444C>T	GRCh37
NC_000007.12:g.33373969C>T	NCBI36
NG_009306.1:g.243293C>T
NG_009306.2:g.243589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1759C>T MANE Select	ENSP00000242067.6:p.Arg587Ter
ENST00000671871.1:c.1882C>T	ENSP00000499908.1:p.Arg628Ter
ENST00000671890.1:c.1624C>T	ENSP00000500146.1:p.Arg542Ter
ENST00000671952.1:c.1759C>T	ENSP00000500239.1:p.Arg587Ter
ENST00000671963.1:c.1393C>T	ENSP00000499904.1:p.Arg465Ter
ENST00000672453.1:n.1528C>T
ENST00000672717.1:c.1654C>T	ENSP00000499835.1:p.Arg552Ter
ENST00000672973.1:c.1759C>T	ENSP00000500017.1:p.Arg587Ter
ENST00000673056.1:c.1759C>T	ENSP00000499989.1:p.Arg587Ter
ENST00000673219.1:c.*1496C>T	ENSP00000499968.1:n.*1496C>T
ENST00000673230.1:n.1790C>T
ENST00000673431.1:c.1624C>T	ENSP00000500552.1:p.Arg542Ter
ENST00000673462.1:c.*505C>T	ENSP00000499848.1:n.*505C>T
ENST00000242067.10:c.1759C>T	ENSP00000242067.6:p.Arg587Ter
ENST00000350941.7:c.1639C>T	ENSP00000313122.6:p.Arg547Ter
ENST00000355070.6:c.1744C>T	ENSP00000347182.2:p.Arg582Ter
ENST00000396127.6:c.1654C>T	ENSP00000379433.2:p.Arg552Ter
ENST00000433714.5:c.*520C>T	ENSP00000412159.1:n.*520C>T
ENST00000434373.3:c.458C>T
ENST00000627264.1:c.330C>T
NM_001033604.1:c.1654C>T	NP_001028776.1:p.Arg552Ter
NM_001033605.1:c.1744C>T	NP_001028777.1:p.Arg582Ter
NM_014451.3:c.1639C>T	NP_055266.2:p.Arg547Ter
NM_198428.2:c.1759C>T	NP_940820.1:p.Arg587Ter
XM_005249700.3:c.1759C>T	XP_005249757.1:p.Arg587Ter
XM_005249701.1:c.1759C>T	XP_005249758.1:p.Arg587Ter
XM_011515264.1:c.1759C>T	XP_011513566.1:p.Arg587Ter
XM_011515265.1:c.1759C>T	XP_011513567.1:p.Arg587Ter
XM_011515266.1:c.1744C>T	XP_011513568.1:p.Arg582Ter
XM_011515267.1:c.1654C>T	XP_011513569.1:p.Arg552Ter
XM_011515268.1:c.1759C>T	XP_011513570.1:p.Arg587Ter
XM_011515269.1:c.1486C>T	XP_011513571.1:p.Arg496Ter
XM_011515270.1:c.1759C>T	XP_011513572.1:p.Arg587Ter
NM_001348036.1:c.1759C>T	NP_001334965.1:p.Arg587Ter
NM_001348037.2:c.1393C>T	NP_001334966.1:p.Arg465Ter
NM_001348038.2:c.1486C>T	NP_001334967.1:p.Arg496Ter
NM_001348039.2:c.1381C>T	NP_001334968.1:p.Arg461Ter
NM_001348040.2:c.1639C>T	NP_001334969.1:p.Arg547Ter
NM_001348041.3:c.1759C>T	NP_001334970.1:p.Arg587Ter
NM_001348042.2:c.1624C>T	NP_001334971.1:p.Arg542Ter
NM_001348043.2:c.1759C>T	NP_001334972.1:p.Arg587Ter
NM_001348044.2:c.1288C>T	NP_001334973.1:p.Arg430Ter
NM_001348045.2:c.1393C>T	NP_001334974.1:p.Arg465Ter
NM_001348046.2:c.1393C>T	NP_001334975.1:p.Arg465Ter
NM_001362679.1:c.1759C>T	NP_001349608.1:p.Arg587Ter
NR_145411.1:n.2038C>T
NR_145412.1:n.2230C>T
NR_145413.2:n.2416C>T
XM_005249701.3:c.1759C>T	XP_005249758.1:p.Arg587Ter
XM_011515265.2:c.1759C>T	XP_011513567.1:p.Arg587Ter
XM_011515266.3:c.1744C>T	XP_011513568.1:p.Arg582Ter
XM_011515267.3:c.1654C>T	XP_011513569.1:p.Arg552Ter
XM_011515269.2:c.1486C>T	XP_011513571.1:p.Arg496Ter
XM_011515270.3:c.1759C>T	XP_011513572.1:p.Arg587Ter
XM_017011990.1:c.1744C>T	XP_016867479.1:p.Arg582Ter
XM_017011994.2:c.*113C>T	XP_016867483.1:n.*113C>T
NM_001348040.3:c.1639C>T	NP_001334969.1:p.Arg547Ter
NM_001348041.4:c.1759C>T	NP_001334970.1:p.Arg587Ter
NM_001348043.3:c.1759C>T	NP_001334972.1:p.Arg587Ter
NM_198428.3:c.1759C>T MANE Select	NP_940820.1:p.Arg587Ter
NM_001033604.2:c.1654C>T	NP_001028776.1:p.Arg552Ter
NM_001033605.2:c.1744C>T	NP_001028777.1:p.Arg582Ter
NM_001348037.3:c.1393C>T	NP_001334966.1:p.Arg465Ter
NM_001348038.3:c.1486C>T	NP_001334967.1:p.Arg496Ter
NM_001348039.3:c.1381C>T	NP_001334968.1:p.Arg461Ter
NM_001348042.3:c.1624C>T	NP_001334971.1:p.Arg542Ter
NM_001348044.3:c.1288C>T	NP_001334973.1:p.Arg430Ter
NM_001348045.3:c.1393C>T	NP_001334974.1:p.Arg465Ter
NM_001348046.3:c.1393C>T	NP_001334975.1:p.Arg465Ter
NM_014451.4:c.1639C>T	NP_055266.2:p.Arg547Ter
NR_145413.3:n.2392C>T