Canonical Allele Identifier: CA358066171

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775955A>T (hg19) ; chr4:g.121854800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854800A>T , CM000666.2:g.121854800A>T	GRCh38
NC_000004.11:g.122775955A>T , CM000666.1:g.122775955A>T	GRCh37
NC_000004.10:g.122995405A>T	NCBI36
NG_009111.1:g.20688T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.622T>A MANE Select	ENSP00000264499.4:p.Leu208Met
ENST00000264499.8:c.622T>A	ENSP00000264499.4:p.Leu208Met
ENST00000506636.1:c.622T>A	ENSP00000423626.1:p.Leu208Met
NM_018190.3:c.622T>A	NP_060660.2:p.Leu208Met
NM_176824.2:c.622T>A	NP_789794.1:p.Leu208Met
XM_005263106.2:c.625T>A	XP_005263163.1:p.Leu209Met
XM_011532079.1:c.670T>A	XP_011530381.1:p.Leu224Met
XM_011532080.1:c.667T>A	XP_011530382.1:p.Leu223Met
XM_011532081.1:c.670T>A	XP_011530383.1:p.Leu224Met
XM_005263106.4:c.625T>A	XP_005263163.1:p.Leu209Met
XM_011532079.3:c.670T>A	XP_011530381.1:p.Leu224Met
XM_011532080.3:c.667T>A	XP_011530382.1:p.Leu223Met
XM_011532081.3:c.670T>A	XP_011530383.1:p.Leu224Met
XM_017008357.2:c.622T>A	XP_016863846.1:p.Leu208Met
XM_017008358.2:c.625T>A	XP_016863847.1:p.Leu209Met
NM_176824.3:c.622T>A MANE Select	NP_789794.1:p.Leu208Met
NM_018190.4:c.622T>A	NP_060660.2:p.Leu208Met