Canonical Allele Identifier: CA358056183

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828714A>G , CM000666.2:g.121828714A>G	GRCh38
NC_000004.11:g.122749869A>G , CM000666.1:g.122749869A>G	GRCh37
NC_000004.10:g.122969319A>G	NCBI36
NG_009111.1:g.46774T>C
NG_052974.1:g.288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1691T>C MANE Select	ENSP00000264499.4:p.Val564Ala
ENST00000264499.8:c.1691T>C	ENSP00000264499.4:p.Val564Ala
ENST00000506636.1:c.1691T>C	ENSP00000423626.1:p.Val564Ala
NM_018190.3:c.1691T>C	NP_060660.2:p.Val564Ala
NM_176824.2:c.1691T>C	NP_789794.1:p.Val564Ala
XM_005263106.2:c.1694T>C	XP_005263163.1:p.Val565Ala
XM_011532079.1:c.1739T>C	XP_011530381.1:p.Val580Ala
XM_011532080.1:c.1736T>C	XP_011530382.1:p.Val579Ala
XM_011532081.1:c.1574T>C	XP_011530383.1:p.Val525Ala
XM_005263106.4:c.1694T>C	XP_005263163.1:p.Val565Ala
XM_011532079.3:c.1739T>C	XP_011530381.1:p.Val580Ala
XM_011532080.3:c.1736T>C	XP_011530382.1:p.Val579Ala
XM_011532081.3:c.1574T>C	XP_011530383.1:p.Val525Ala
XM_017008357.2:c.1526T>C	XP_016863846.1:p.Val509Ala
XM_017008358.2:c.1529T>C	XP_016863847.1:p.Val510Ala
NM_176824.3:c.1691T>C MANE Select	NP_789794.1:p.Val564Ala
NM_018190.4:c.1691T>C	NP_060660.2:p.Val564Ala