Canonical Allele Identifier: CA440920609

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121833353A>C , CM000666.2:g.121833353A>C	GRCh38
NC_000004.11:g.122754508A>C , CM000666.1:g.122754508A>C	GRCh37
NC_000004.10:g.122973958A>C	NCBI36
NG_009111.1:g.42135T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1554T>G MANE Select	ENSP00000264499.4:p.Ala518=
ENST00000264499.8:c.1554T>G	ENSP00000264499.4:p.Ala518=
ENST00000506636.1:c.1554T>G	ENSP00000423626.1:p.Ala518=
NM_018190.3:c.1554T>G	NP_060660.2:p.Ala518=
NM_176824.2:c.1554T>G	NP_789794.1:p.Ala518=
XM_005263106.2:c.1557T>G	XP_005263163.1:p.Ala519=
XM_011532079.1:c.1602T>G	XP_011530381.1:p.Ala534=
XM_011532080.1:c.1599T>G	XP_011530382.1:p.Ala533=
XM_011532081.1:c.1559+1791T>G	XP_011530383.1:n.1559+1791T>G
XM_005263106.4:c.1557T>G	XP_005263163.1:p.Ala519=
XM_011532079.3:c.1602T>G	XP_011530381.1:p.Ala534=
XM_011532080.3:c.1599T>G	XP_011530382.1:p.Ala533=
XM_011532081.3:c.1559+1791T>G	XP_011530383.1:n.1559+1791T>G
XM_017008357.2:c.1511+1791T>G	XP_016863846.1:n.1511+1791T>G
XM_017008358.2:c.1514+1791T>G	XP_016863847.1:n.1514+1791T>G
NM_176824.3:c.1554T>G MANE Select	NP_789794.1:p.Ala518=
NM_018190.4:c.1554T>G	NP_060660.2:p.Ala518=