Canonical Allele Identifier: CA3064178

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121833304G>T , CM000666.2:g.121833304G>T	GRCh38
NC_000004.11:g.122754459G>T , CM000666.1:g.122754459G>T	GRCh37
NC_000004.10:g.122973909G>T	NCBI36
NG_009111.1:g.42184C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.1603C>A MANE Select	NP_789794.1:p.Pro535Thr
ENST00000264499.9:c.1603C>A MANE Select	ENSP00000264499.4:p.Pro535Thr
NM_018190.3:c.1603C>A	NP_060660.2:p.Pro535Thr
NM_018190.4:c.1603C>A	NP_060660.2:p.Pro535Thr
NM_176824.2:c.1603C>A	NP_789794.1:p.Pro535Thr
ENST00000264499.8:c.1603C>A	ENSP00000264499.4:p.Pro535Thr
ENST00000506636.1:c.1603C>A	ENSP00000423626.1:p.Pro535Thr
XM_005263106.2:c.1606C>A	XP_005263163.1:p.Pro536Thr
XM_005263106.4:c.1606C>A	XP_005263163.1:p.Pro536Thr
XM_011532079.1:c.1651C>A	XP_011530381.1:p.Pro551Thr
XM_011532079.3:c.1651C>A	XP_011530381.1:p.Pro551Thr
XM_011532080.1:c.1648C>A	XP_011530382.1:p.Pro550Thr
XM_011532080.3:c.1648C>A	XP_011530382.1:p.Pro550Thr
XM_011532081.1:c.1559+1840C>A	XP_011530383.1:n.1559+1840C>A
XM_011532081.3:c.1559+1840C>A	XP_011530383.1:n.1559+1840C>A
XM_017008357.2:c.1511+1840C>A	XP_016863846.1:n.1511+1840C>A
XM_017008358.2:c.1514+1840C>A	XP_016863847.1:n.1514+1840C>A