Canonical Allele Identifier: CA367252347

Gene: BBS9

Linked Data

• MyVariant Identifiers: chr7:g.33407382T>C (hg19) ; chr7:g.33367770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33367770T>C , CM000669.2:g.33367770T>C	GRCh38
NC_000007.13:g.33407382T>C , CM000669.1:g.33407382T>C	GRCh37
NC_000007.12:g.33373907T>C	NCBI36
NG_009306.1:g.243231T>C
NG_009306.2:g.243527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1697T>C MANE Select	ENSP00000242067.6:p.Phe566Ser
ENST00000671871.1:c.1820T>C	ENSP00000499908.1:p.Phe607Ser
ENST00000671890.1:c.1562T>C	ENSP00000500146.1:p.Phe521Ser
ENST00000671952.1:c.1697T>C	ENSP00000500239.1:p.Phe566Ser
ENST00000671963.1:c.1331T>C	ENSP00000499904.1:p.Phe444Ser
ENST00000672453.1:n.1466T>C
ENST00000672717.1:c.1592T>C	ENSP00000499835.1:p.Phe531Ser
ENST00000672973.1:c.1697T>C	ENSP00000500017.1:p.Phe566Ser
ENST00000673056.1:c.1697T>C	ENSP00000499989.1:p.Phe566Ser
ENST00000673219.1:c.*1434T>C	ENSP00000499968.1:n.*1434T>C
ENST00000673230.1:n.1728T>C
ENST00000673431.1:c.1562T>C	ENSP00000500552.1:p.Phe521Ser
ENST00000673462.1:c.*443T>C	ENSP00000499848.1:n.*443T>C
ENST00000242067.10:c.1697T>C	ENSP00000242067.6:p.Phe566Ser
ENST00000350941.7:c.1577T>C	ENSP00000313122.6:p.Phe526Ser
ENST00000355070.6:c.1682T>C	ENSP00000347182.2:p.Phe561Ser
ENST00000396127.6:c.1592T>C	ENSP00000379433.2:p.Phe531Ser
ENST00000433714.5:c.*458T>C	ENSP00000412159.1:n.*458T>C
ENST00000434373.3:c.396T>C
ENST00000627264.1:c.268T>C
NM_001033604.1:c.1592T>C	NP_001028776.1:p.Phe531Ser
NM_001033605.1:c.1682T>C	NP_001028777.1:p.Phe561Ser
NM_014451.3:c.1577T>C	NP_055266.2:p.Phe526Ser
NM_198428.2:c.1697T>C	NP_940820.1:p.Phe566Ser
XM_005249700.3:c.1697T>C	XP_005249757.1:p.Phe566Ser
XM_005249701.1:c.1697T>C	XP_005249758.1:p.Phe566Ser
XM_011515264.1:c.1697T>C	XP_011513566.1:p.Phe566Ser
XM_011515265.1:c.1697T>C	XP_011513567.1:p.Phe566Ser
XM_011515266.1:c.1682T>C	XP_011513568.1:p.Phe561Ser
XM_011515267.1:c.1592T>C	XP_011513569.1:p.Phe531Ser
XM_011515268.1:c.1697T>C	XP_011513570.1:p.Phe566Ser
XM_011515269.1:c.1424T>C	XP_011513571.1:p.Phe475Ser
XM_011515270.1:c.1697T>C	XP_011513572.1:p.Phe566Ser
NM_001348036.1:c.1697T>C	NP_001334965.1:p.Phe566Ser
NM_001348037.2:c.1331T>C	NP_001334966.1:p.Phe444Ser
NM_001348038.2:c.1424T>C	NP_001334967.1:p.Phe475Ser
NM_001348039.2:c.1319T>C	NP_001334968.1:p.Phe440Ser
NM_001348040.2:c.1577T>C	NP_001334969.1:p.Phe526Ser
NM_001348041.3:c.1697T>C	NP_001334970.1:p.Phe566Ser
NM_001348042.2:c.1562T>C	NP_001334971.1:p.Phe521Ser
NM_001348043.2:c.1697T>C	NP_001334972.1:p.Phe566Ser
NM_001348044.2:c.1226T>C	NP_001334973.1:p.Phe409Ser
NM_001348045.2:c.1331T>C	NP_001334974.1:p.Phe444Ser
NM_001348046.2:c.1331T>C	NP_001334975.1:p.Phe444Ser
NM_001362679.1:c.1697T>C	NP_001349608.1:p.Phe566Ser
NR_145411.1:n.1976T>C
NR_145412.1:n.2168T>C
NR_145413.2:n.2354T>C
XM_005249701.3:c.1697T>C	XP_005249758.1:p.Phe566Ser
XM_011515265.2:c.1697T>C	XP_011513567.1:p.Phe566Ser
XM_011515266.3:c.1682T>C	XP_011513568.1:p.Phe561Ser
XM_011515267.3:c.1592T>C	XP_011513569.1:p.Phe531Ser
XM_011515269.2:c.1424T>C	XP_011513571.1:p.Phe475Ser
XM_011515270.3:c.1697T>C	XP_011513572.1:p.Phe566Ser
XM_017011990.1:c.1682T>C	XP_016867479.1:p.Phe561Ser
XM_017011994.2:c.*51T>C	XP_016867483.1:n.*51T>C
NM_001348040.3:c.1577T>C	NP_001334969.1:p.Phe526Ser
NM_001348041.4:c.1697T>C	NP_001334970.1:p.Phe566Ser
NM_001348043.3:c.1697T>C	NP_001334972.1:p.Phe566Ser
NM_198428.3:c.1697T>C MANE Select	NP_940820.1:p.Phe566Ser
NM_001033604.2:c.1592T>C	NP_001028776.1:p.Phe531Ser
NM_001033605.2:c.1682T>C	NP_001028777.1:p.Phe561Ser
NM_001348037.3:c.1331T>C	NP_001334966.1:p.Phe444Ser
NM_001348038.3:c.1424T>C	NP_001334967.1:p.Phe475Ser
NM_001348039.3:c.1319T>C	NP_001334968.1:p.Phe440Ser
NM_001348042.3:c.1562T>C	NP_001334971.1:p.Phe521Ser
NM_001348044.3:c.1226T>C	NP_001334973.1:p.Phe409Ser
NM_001348045.3:c.1331T>C	NP_001334974.1:p.Phe444Ser
NM_001348046.3:c.1331T>C	NP_001334975.1:p.Phe444Ser
NM_014451.4:c.1577T>C	NP_055266.2:p.Phe526Ser
NR_145413.3:n.2330T>C