Canonical Allele Identifier: CA381457312

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283024C>A (hg19) ; chr11:g.66515553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515553C>A , CM000673.2:g.66515553C>A	GRCh38
NC_000011.9:g.66283024C>A , CM000673.1:g.66283024C>A	GRCh37
NC_000011.8:g.66039600C>A	NCBI36
NG_009093.1:g.9906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.446C>A MANE Select	ENSP00000317469.7:p.Pro149His
ENST00000318312.11:c.446C>A	ENSP00000317469.7:p.Pro149His
ENST00000393994.4:c.446C>A	ENSP00000377563.2:p.Pro149His
ENST00000419755.3:c.557C>A	ENSP00000398526.3:p.Pro186His
ENST00000455748.6:c.432+875C>A	ENSP00000405764.2:n.432+875C>A
ENST00000524458.5:c.*140-140C>A	ENSP00000436195.1:n.*140-140C>A
ENST00000524705.2:c.167C>A	ENSP00000436927.1:p.Pro56His
ENST00000524907.5:n.436C>A
ENST00000525809.5:c.173C>A	ENSP00000431187.1:p.Pro58His
ENST00000526035.5:c.*153C>A	ENSP00000434197.1:n.*153C>A
ENST00000526760.5:c.*153C>A	ENSP00000432140.1:n.*153C>A
ENST00000527251.5:c.*153C>A	ENSP00000434360.1:n.*153C>A
ENST00000529766.5:n.453C>A
ENST00000529953.5:n.98C>A
ENST00000529955.5:n.451-140C>A
ENST00000532908.5:c.*140-140C>A	ENSP00000431866.1:n.*140-140C>A
ENST00000533430.5:n.224C>A
ENST00000533557.5:c.*140-140C>A	ENSP00000434619.1:n.*140-140C>A
ENST00000533644.5:c.433-140C>A	ENSP00000436073.1:n.433-140C>A
ENST00000534730.5:n.458C>A
ENST00000630659.2:c.*153C>A	ENSP00000486455.1:n.*153C>A
NM_024649.4:c.446C>A	NP_078925.3:p.Pro149His
NM_024649.5:c.446C>A MANE Select	NP_078925.3:p.Pro149His