Canonical Allele Identifier: CA6123348

Gene: BBS1

Linked Data

• ClinVar Variation Id: 305460
• ClinVar RCV Id: RCV000372823 ; RCV001435806 ; RCV003888719
• dbSNP Id: rs763738657
• ExAC: 11:66283025 C / T
• gnomAD v2: 11-66283025-C-T
• gnomAD v3: 11-66515554-C-T
• gnomAD v4: 11-66515554-C-T
• MyVariant Identifiers: chr11:g.66283025C>T (hg19) ; chr11:g.66515554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515554C>T , CM000673.2:g.66515554C>T	GRCh38
NC_000011.9:g.66283025C>T , CM000673.1:g.66283025C>T	GRCh37
NC_000011.8:g.66039601C>T	NCBI36
NG_009093.1:g.9907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.447C>T MANE Select	ENSP00000317469.7:p.Pro149=
ENST00000318312.11:c.447C>T	ENSP00000317469.7:p.Pro149=
ENST00000393994.4:c.447C>T	ENSP00000377563.2:p.Pro149=
ENST00000419755.3:c.558C>T	ENSP00000398526.3:p.Pro186=
ENST00000455748.6:c.432+876C>T	ENSP00000405764.2:n.432+876C>T
ENST00000524458.5:c.*140-139C>T	ENSP00000436195.1:n.*140-139C>T
ENST00000524705.2:c.168C>T	ENSP00000436927.1:p.Pro56=
ENST00000524907.5:n.437C>T
ENST00000525809.5:c.174C>T	ENSP00000431187.1:p.Pro58=
ENST00000526035.5:c.*154C>T	ENSP00000434197.1:n.*154C>T
ENST00000526760.5:c.*154C>T	ENSP00000432140.1:n.*154C>T
ENST00000527251.5:c.*154C>T	ENSP00000434360.1:n.*154C>T
ENST00000529766.5:n.454C>T
ENST00000529953.5:n.99C>T
ENST00000529955.5:n.451-139C>T
ENST00000532908.5:c.*140-139C>T	ENSP00000431866.1:n.*140-139C>T
ENST00000533430.5:n.225C>T
ENST00000533557.5:c.*140-139C>T	ENSP00000434619.1:n.*140-139C>T
ENST00000533644.5:c.433-139C>T	ENSP00000436073.1:n.433-139C>T
ENST00000534730.5:n.459C>T
ENST00000630659.2:c.*154C>T	ENSP00000486455.1:n.*154C>T
NM_024649.4:c.447C>T	NP_078925.3:p.Pro149=
NM_024649.5:c.447C>T MANE Select	NP_078925.3:p.Pro149=