Canonical Allele Identifier: CA358054210

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828153T>G , CM000666.2:g.121828153T>G	GRCh38
NC_000004.11:g.122749308T>G , CM000666.1:g.122749308T>G	GRCh37
NC_000004.10:g.122968758T>G	NCBI36
NG_009111.1:g.47335A>C
NG_052974.1:g.849A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.2007A>C MANE Select	ENSP00000264499.4:p.Arg669Ser
ENST00000264499.8:c.2007A>C	ENSP00000264499.4:p.Arg669Ser
ENST00000506636.1:c.2007A>C	ENSP00000423626.1:p.Arg669Ser
ENST00000507814.5:c.276A>C	ENSP00000423250.1:p.Arg92Ser
NM_018190.3:c.2007A>C	NP_060660.2:p.Arg669Ser
NM_176824.2:c.2007A>C	NP_789794.1:p.Arg669Ser
XM_005263106.2:c.2010A>C	XP_005263163.1:p.Arg670Ser
XM_011532079.1:c.2055A>C	XP_011530381.1:p.Arg685Ser
XM_011532080.1:c.2052A>C	XP_011530382.1:p.Arg684Ser
XM_011532081.1:c.1890A>C	XP_011530383.1:p.Arg630Ser
XM_005263106.4:c.2010A>C	XP_005263163.1:p.Arg670Ser
XM_011532079.3:c.2055A>C	XP_011530381.1:p.Arg685Ser
XM_011532080.3:c.2052A>C	XP_011530382.1:p.Arg684Ser
XM_011532081.3:c.1890A>C	XP_011530383.1:p.Arg630Ser
XM_017008357.2:c.1842A>C	XP_016863846.1:p.Arg614Ser
XM_017008358.2:c.1845A>C	XP_016863847.1:p.Arg615Ser
NM_176824.3:c.2007A>C MANE Select	NP_789794.1:p.Arg669Ser
NM_018190.4:c.2007A>C	NP_060660.2:p.Arg669Ser