Canonical Allele Identifier: CA358054295

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828190T>C , CM000666.2:g.121828190T>C	GRCh38
NC_000004.11:g.122749345T>C , CM000666.1:g.122749345T>C	GRCh37
NC_000004.10:g.122968795T>C	NCBI36
NG_009111.1:g.47298A>G
NG_052974.1:g.812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1970A>G MANE Select	ENSP00000264499.4:p.Gln657Arg
ENST00000264499.8:c.1970A>G	ENSP00000264499.4:p.Gln657Arg
ENST00000506636.1:c.1970A>G	ENSP00000423626.1:p.Gln657Arg
ENST00000507814.5:c.239A>G	ENSP00000423250.1:p.Gln80Arg
NM_018190.3:c.1970A>G	NP_060660.2:p.Gln657Arg
NM_176824.2:c.1970A>G	NP_789794.1:p.Gln657Arg
XM_005263106.2:c.1973A>G	XP_005263163.1:p.Gln658Arg
XM_011532079.1:c.2018A>G	XP_011530381.1:p.Gln673Arg
XM_011532080.1:c.2015A>G	XP_011530382.1:p.Gln672Arg
XM_011532081.1:c.1853A>G	XP_011530383.1:p.Gln618Arg
XM_005263106.4:c.1973A>G	XP_005263163.1:p.Gln658Arg
XM_011532079.3:c.2018A>G	XP_011530381.1:p.Gln673Arg
XM_011532080.3:c.2015A>G	XP_011530382.1:p.Gln672Arg
XM_011532081.3:c.1853A>G	XP_011530383.1:p.Gln618Arg
XM_017008357.2:c.1805A>G	XP_016863846.1:p.Gln602Arg
XM_017008358.2:c.1808A>G	XP_016863847.1:p.Gln603Arg
NM_176824.3:c.1970A>G MANE Select	NP_789794.1:p.Gln657Arg
NM_018190.4:c.1970A>G	NP_060660.2:p.Gln657Arg