Canonical Allele Identifier: CA200595

Gene: BBS1

Linked Data

• ClinVar Variation Id: 193457
• ClinVar RCV Id: RCV000173529 ; RCV000226235 ; RCV000709651 ; RCV003407641 ; RCV003891704
• dbSNP Id: rs55848325
• ExAC: 11:66278154 T / C
• gnomAD v2: 11-66278154-T-C
• gnomAD v3: 11-66510683-T-C
• gnomAD v4: 11-66510683-T-C
• MyVariant Identifiers: chr11:g.66278154T>C (hg19) ; chr11:g.66510683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510683T>C , CM000673.2:g.66510683T>C	GRCh38
NC_000011.9:g.66278154T>C , CM000673.1:g.66278154T>C	GRCh37
NC_000011.8:g.66034730T>C	NCBI36
NG_009093.1:g.5036T>C
NG_032068.1:g.35275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.24T>C MANE Select	ENSP00000317469.7:p.Asp8=
ENST00000318312.11:c.24T>C	ENSP00000317469.7:p.Asp8=
ENST00000393994.4:c.24T>C	ENSP00000377563.2:p.Asp8=
ENST00000419755.3:c.159-330T>C	ENSP00000398526.3:n.159-330T>C
ENST00000455748.6:c.24T>C	ENSP00000405764.2:p.Asp8=
ENST00000524907.5:n.14T>C
ENST00000525809.5:c.24T>C	ENSP00000431187.1:p.Asp8=
ENST00000526035.5:c.24T>C	ENSP00000434197.1:p.Asp8=
ENST00000526760.5:c.24T>C	ENSP00000432140.1:p.Asp8=
ENST00000526815.5:c.-373T>C	ENSP00000436860.1:n.-373T>C
ENST00000527251.5:c.-373T>C	ENSP00000434360.1:n.-373T>C
ENST00000529766.5:n.31T>C
ENST00000529955.5:n.42T>C
ENST00000532908.5:c.24T>C	ENSP00000431866.1:p.Asp8=
ENST00000533557.5:c.24T>C	ENSP00000434619.1:p.Asp8=
ENST00000533644.5:c.24T>C	ENSP00000436073.1:p.Asp8=
ENST00000534730.5:n.36T>C
ENST00000630659.2:c.24T>C	ENSP00000486455.1:p.Asp8=
NM_024649.4:c.24T>C	NP_078925.3:p.Asp8=
NM_024649.5:c.24T>C MANE Select	NP_078925.3:p.Asp8=