Canonical Allele Identifier: CA358054268

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122749333T>G (hg19) ; chr4:g.121828178T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828178T>G , CM000666.2:g.121828178T>G	GRCh38
NC_000004.11:g.122749333T>G , CM000666.1:g.122749333T>G	GRCh37
NC_000004.10:g.122968783T>G	NCBI36
NG_009111.1:g.47310A>C
NG_052974.1:g.824A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1982A>C MANE Select	ENSP00000264499.4:p.Lys661Thr
ENST00000264499.8:c.1982A>C	ENSP00000264499.4:p.Lys661Thr
ENST00000506636.1:c.1982A>C	ENSP00000423626.1:p.Lys661Thr
ENST00000507814.5:c.251A>C	ENSP00000423250.1:p.Lys84Thr
NM_018190.3:c.1982A>C	NP_060660.2:p.Lys661Thr
NM_176824.2:c.1982A>C	NP_789794.1:p.Lys661Thr
XM_005263106.2:c.1985A>C	XP_005263163.1:p.Lys662Thr
XM_011532079.1:c.2030A>C	XP_011530381.1:p.Lys677Thr
XM_011532080.1:c.2027A>C	XP_011530382.1:p.Lys676Thr
XM_011532081.1:c.1865A>C	XP_011530383.1:p.Lys622Thr
XM_005263106.4:c.1985A>C	XP_005263163.1:p.Lys662Thr
XM_011532079.3:c.2030A>C	XP_011530381.1:p.Lys677Thr
XM_011532080.3:c.2027A>C	XP_011530382.1:p.Lys676Thr
XM_011532081.3:c.1865A>C	XP_011530383.1:p.Lys622Thr
XM_017008357.2:c.1817A>C	XP_016863846.1:p.Lys606Thr
XM_017008358.2:c.1820A>C	XP_016863847.1:p.Lys607Thr
NM_176824.3:c.1982A>C MANE Select	NP_789794.1:p.Lys661Thr
NM_018190.4:c.1982A>C	NP_060660.2:p.Lys661Thr