Canonical Allele Identifier: CA367252354

Gene: BBS9

Linked Data

• dbSNP Id: rs768755301
• gnomAD v4: 7-33367773-C-T
• MyVariant Identifiers: chr7:g.33407385C>T (hg19) ; chr7:g.33367773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33367773C>T , CM000669.2:g.33367773C>T	GRCh38
NC_000007.13:g.33407385C>T , CM000669.1:g.33407385C>T	GRCh37
NC_000007.12:g.33373910C>T	NCBI36
NG_009306.1:g.243234C>T
NG_009306.2:g.243530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1700C>T MANE Select	ENSP00000242067.6:p.Ala567Val
ENST00000671871.1:c.1823C>T	ENSP00000499908.1:p.Ala608Val
ENST00000671890.1:c.1565C>T	ENSP00000500146.1:p.Ala522Val
ENST00000671952.1:c.1700C>T	ENSP00000500239.1:p.Ala567Val
ENST00000671963.1:c.1334C>T	ENSP00000499904.1:p.Ala445Val
ENST00000672453.1:n.1469C>T
ENST00000672717.1:c.1595C>T	ENSP00000499835.1:p.Ala532Val
ENST00000672973.1:c.1700C>T	ENSP00000500017.1:p.Ala567Val
ENST00000673056.1:c.1700C>T	ENSP00000499989.1:p.Ala567Val
ENST00000673219.1:c.*1437C>T	ENSP00000499968.1:n.*1437C>T
ENST00000673230.1:n.1731C>T
ENST00000673431.1:c.1565C>T	ENSP00000500552.1:p.Ala522Val
ENST00000673462.1:c.*446C>T	ENSP00000499848.1:n.*446C>T
ENST00000242067.10:c.1700C>T	ENSP00000242067.6:p.Ala567Val
ENST00000350941.7:c.1580C>T	ENSP00000313122.6:p.Ala527Val
ENST00000355070.6:c.1685C>T	ENSP00000347182.2:p.Ala562Val
ENST00000396127.6:c.1595C>T	ENSP00000379433.2:p.Ala532Val
ENST00000433714.5:c.*461C>T	ENSP00000412159.1:n.*461C>T
ENST00000434373.3:c.399C>T
ENST00000627264.1:c.271C>T
NM_001033604.1:c.1595C>T	NP_001028776.1:p.Ala532Val
NM_001033605.1:c.1685C>T	NP_001028777.1:p.Ala562Val
NM_014451.3:c.1580C>T	NP_055266.2:p.Ala527Val
NM_198428.2:c.1700C>T	NP_940820.1:p.Ala567Val
XM_005249700.3:c.1700C>T	XP_005249757.1:p.Ala567Val
XM_005249701.1:c.1700C>T	XP_005249758.1:p.Ala567Val
XM_011515264.1:c.1700C>T	XP_011513566.1:p.Ala567Val
XM_011515265.1:c.1700C>T	XP_011513567.1:p.Ala567Val
XM_011515266.1:c.1685C>T	XP_011513568.1:p.Ala562Val
XM_011515267.1:c.1595C>T	XP_011513569.1:p.Ala532Val
XM_011515268.1:c.1700C>T	XP_011513570.1:p.Ala567Val
XM_011515269.1:c.1427C>T	XP_011513571.1:p.Ala476Val
XM_011515270.1:c.1700C>T	XP_011513572.1:p.Ala567Val
NM_001348036.1:c.1700C>T	NP_001334965.1:p.Ala567Val
NM_001348037.2:c.1334C>T	NP_001334966.1:p.Ala445Val
NM_001348038.2:c.1427C>T	NP_001334967.1:p.Ala476Val
NM_001348039.2:c.1322C>T	NP_001334968.1:p.Ala441Val
NM_001348040.2:c.1580C>T	NP_001334969.1:p.Ala527Val
NM_001348041.3:c.1700C>T	NP_001334970.1:p.Ala567Val
NM_001348042.2:c.1565C>T	NP_001334971.1:p.Ala522Val
NM_001348043.2:c.1700C>T	NP_001334972.1:p.Ala567Val
NM_001348044.2:c.1229C>T	NP_001334973.1:p.Ala410Val
NM_001348045.2:c.1334C>T	NP_001334974.1:p.Ala445Val
NM_001348046.2:c.1334C>T	NP_001334975.1:p.Ala445Val
NM_001362679.1:c.1700C>T	NP_001349608.1:p.Ala567Val
NR_145411.1:n.1979C>T
NR_145412.1:n.2171C>T
NR_145413.2:n.2357C>T
XM_005249701.3:c.1700C>T	XP_005249758.1:p.Ala567Val
XM_011515265.2:c.1700C>T	XP_011513567.1:p.Ala567Val
XM_011515266.3:c.1685C>T	XP_011513568.1:p.Ala562Val
XM_011515267.3:c.1595C>T	XP_011513569.1:p.Ala532Val
XM_011515269.2:c.1427C>T	XP_011513571.1:p.Ala476Val
XM_011515270.3:c.1700C>T	XP_011513572.1:p.Ala567Val
XM_017011990.1:c.1685C>T	XP_016867479.1:p.Ala562Val
XM_017011994.2:c.*54C>T	XP_016867483.1:n.*54C>T
NM_001348040.3:c.1580C>T	NP_001334969.1:p.Ala527Val
NM_001348041.4:c.1700C>T	NP_001334970.1:p.Ala567Val
NM_001348043.3:c.1700C>T	NP_001334972.1:p.Ala567Val
NM_198428.3:c.1700C>T MANE Select	NP_940820.1:p.Ala567Val
NM_001033604.2:c.1595C>T	NP_001028776.1:p.Ala532Val
NM_001033605.2:c.1685C>T	NP_001028777.1:p.Ala562Val
NM_001348037.3:c.1334C>T	NP_001334966.1:p.Ala445Val
NM_001348038.3:c.1427C>T	NP_001334967.1:p.Ala476Val
NM_001348039.3:c.1322C>T	NP_001334968.1:p.Ala441Val
NM_001348042.3:c.1565C>T	NP_001334971.1:p.Ala522Val
NM_001348044.3:c.1229C>T	NP_001334973.1:p.Ala410Val
NM_001348045.3:c.1334C>T	NP_001334974.1:p.Ala445Val
NM_001348046.3:c.1334C>T	NP_001334975.1:p.Ala445Val
NM_014451.4:c.1580C>T	NP_055266.2:p.Ala527Val
NR_145413.3:n.2333C>T