Canonical Allele Identifier: CA358054277

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122749337A>T (hg19) ; chr4:g.121828182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828182A>T , CM000666.2:g.121828182A>T	GRCh38
NC_000004.11:g.122749337A>T , CM000666.1:g.122749337A>T	GRCh37
NC_000004.10:g.122968787A>T	NCBI36
NG_009111.1:g.47306T>A
NG_052974.1:g.820T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1978T>A MANE Select	ENSP00000264499.4:p.Tyr660Asn
ENST00000264499.8:c.1978T>A	ENSP00000264499.4:p.Tyr660Asn
ENST00000506636.1:c.1978T>A	ENSP00000423626.1:p.Tyr660Asn
ENST00000507814.5:c.247T>A	ENSP00000423250.1:p.Tyr83Asn
NM_018190.3:c.1978T>A	NP_060660.2:p.Tyr660Asn
NM_176824.2:c.1978T>A	NP_789794.1:p.Tyr660Asn
XM_005263106.2:c.1981T>A	XP_005263163.1:p.Tyr661Asn
XM_011532079.1:c.2026T>A	XP_011530381.1:p.Tyr676Asn
XM_011532080.1:c.2023T>A	XP_011530382.1:p.Tyr675Asn
XM_011532081.1:c.1861T>A	XP_011530383.1:p.Tyr621Asn
XM_005263106.4:c.1981T>A	XP_005263163.1:p.Tyr661Asn
XM_011532079.3:c.2026T>A	XP_011530381.1:p.Tyr676Asn
XM_011532080.3:c.2023T>A	XP_011530382.1:p.Tyr675Asn
XM_011532081.3:c.1861T>A	XP_011530383.1:p.Tyr621Asn
XM_017008357.2:c.1813T>A	XP_016863846.1:p.Tyr605Asn
XM_017008358.2:c.1816T>A	XP_016863847.1:p.Tyr606Asn
NM_176824.3:c.1978T>A MANE Select	NP_789794.1:p.Tyr660Asn
NM_018190.4:c.1978T>A	NP_060660.2:p.Tyr660Asn