Canonical Allele Identifier: CA475492196

Gene: BBS1

Linked Data

• dbSNP Id: rs1362313603
• gnomAD v2: 11-66282014-C-T
• gnomAD v4: 11-66514543-C-T
• MyVariant Identifiers: chr11:g.66282014C>T (hg19) ; chr11:g.66514543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514543C>T , CM000673.2:g.66514543C>T	GRCh38
NC_000011.9:g.66282014C>T , CM000673.1:g.66282014C>T	GRCh37
NC_000011.8:g.66038590C>T	NCBI36
NG_009093.1:g.8896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.297C>T MANE Select	ENSP00000317469.7:p.Pro99=
ENST00000318312.11:c.297C>T	ENSP00000317469.7:p.Pro99=
ENST00000393994.4:c.297C>T	ENSP00000377563.2:p.Pro99=
ENST00000419755.3:c.408C>T	ENSP00000398526.3:p.Pro136=
ENST00000455748.6:c.297C>T	ENSP00000405764.2:p.Pro99=
ENST00000524458.5:c.*4C>T	ENSP00000436195.1:n.*4C>T
ENST00000524705.2:c.18C>T	ENSP00000436927.1:p.Pro6=
ENST00000524907.5:n.287C>T
ENST00000525809.5:c.160-997C>T	ENSP00000431187.1:n.160-997C>T
ENST00000526035.5:c.*4C>T	ENSP00000434197.1:n.*4C>T
ENST00000526760.5:c.*4C>T	ENSP00000432140.1:n.*4C>T
ENST00000527251.5:c.*4C>T	ENSP00000434360.1:n.*4C>T
ENST00000529766.5:n.304C>T
ENST00000529955.5:n.315C>T
ENST00000532908.5:c.*4C>T	ENSP00000431866.1:n.*4C>T
ENST00000533430.5:n.75C>T
ENST00000533557.5:c.*4C>T	ENSP00000434619.1:n.*4C>T
ENST00000533644.5:c.297C>T	ENSP00000436073.1:p.Pro99=
ENST00000534730.5:n.309C>T
ENST00000630659.2:c.*4C>T	ENSP00000486455.1:n.*4C>T
NM_024649.4:c.297C>T	NP_078925.3:p.Pro99=
NM_024649.5:c.297C>T MANE Select	NP_078925.3:p.Pro99=