Canonical Allele Identifier: CA6123294

Gene: BBS1

Linked Data

• ClinVar Variation Id: 305458
• ClinVar RCV Id: RCV000302278 ; RCV000710723 ; RCV000764994 ; RCV001820903 ; RCV003417984 ; RCV003888718
• dbSNP Id: rs138744839
• ExAC: 11:66281952 G / A
• gnomAD v2: 11-66281952-G-A
• gnomAD v3: 11-66514481-G-A
• gnomAD v4: 11-66514481-G-A
• MyVariant Identifiers: chr11:g.66281952G>A (hg19) ; chr11:g.66514481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514481G>A , CM000673.2:g.66514481G>A	GRCh38
NC_000011.9:g.66281952G>A , CM000673.1:g.66281952G>A	GRCh37
NC_000011.8:g.66038528G>A	NCBI36
NG_009093.1:g.8834G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.235G>A MANE Select	ENSP00000317469.7:p.Glu79Lys
ENST00000318312.11:c.235G>A	ENSP00000317469.7:p.Glu79Lys
ENST00000393994.4:c.235G>A	ENSP00000377563.2:p.Glu79Lys
ENST00000419755.3:c.346G>A	ENSP00000398526.3:p.Glu116Lys
ENST00000455748.6:c.235G>A	ENSP00000405764.2:p.Glu79Lys
ENST00000524458.5:c.110G>A	ENSP00000436195.1:p.Arg37Gln
ENST00000524705.2:c.-20-25G>A	ENSP00000436927.1:n.-20-25G>A
ENST00000524907.5:n.225G>A
ENST00000525809.5:c.160-1059G>A	ENSP00000431187.1:n.160-1059G>A
ENST00000526035.5:c.200G>A	ENSP00000434197.1:p.Arg67Gln
ENST00000526760.5:c.200G>A	ENSP00000432140.1:p.Arg67Gln
ENST00000526815.5:c.145G>A	ENSP00000436860.1:p.Glu49Lys
ENST00000527251.5:c.110G>A	ENSP00000434360.1:p.Arg37Gln
ENST00000529766.5:n.242G>A
ENST00000529955.5:n.253G>A
ENST00000532908.5:c.200G>A	ENSP00000431866.1:p.Arg67Gln
ENST00000533430.5:n.13G>A
ENST00000533557.5:c.200G>A	ENSP00000434619.1:p.Arg67Gln
ENST00000533644.5:c.235G>A	ENSP00000436073.1:p.Glu79Lys
ENST00000534730.5:n.247G>A
ENST00000630659.2:c.200G>A	ENSP00000486455.1:p.Arg67Gln
NM_024649.4:c.235G>A	NP_078925.3:p.Glu79Lys
NM_024649.5:c.235G>A MANE Select	NP_078925.3:p.Glu79Lys