Canonical Allele Identifier: CA381457537

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283353T>G (hg19) ; chr11:g.66515882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515882T>G , CM000673.2:g.66515882T>G	GRCh38
NC_000011.9:g.66283353T>G , CM000673.1:g.66283353T>G	GRCh37
NC_000011.8:g.66039929T>G	NCBI36
NG_009093.1:g.10235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.540T>G MANE Select	ENSP00000317469.7:p.Ser180Arg
ENST00000318312.11:c.540T>G	ENSP00000317469.7:p.Ser180Arg
ENST00000393994.4:c.540T>G	ENSP00000377563.2:p.Ser180Arg
ENST00000419755.3:c.651T>G	ENSP00000398526.3:p.Ser217Arg
ENST00000455748.6:c.432+1204T>G	ENSP00000405764.2:n.432+1204T>G
ENST00000524458.5:c.*329T>G	ENSP00000436195.1:n.*329T>G
ENST00000524907.5:n.636T>G
ENST00000525809.5:c.267T>G	ENSP00000431187.1:p.Ser89Arg
ENST00000526035.5:c.*247T>G	ENSP00000434197.1:n.*247T>G
ENST00000526760.5:c.*247T>G	ENSP00000432140.1:n.*247T>G
ENST00000527251.5:c.*247T>G	ENSP00000434360.1:n.*247T>G
ENST00000528543.1:n.62T>G
ENST00000529766.5:n.547T>G
ENST00000529953.5:n.192T>G
ENST00000529955.5:n.511T>G
ENST00000532908.5:c.*200T>G	ENSP00000431866.1:n.*200T>G
ENST00000533430.5:n.318T>G
ENST00000533557.5:c.*200T>G	ENSP00000434619.1:n.*200T>G
ENST00000533644.5:c.493T>G	ENSP00000436073.1:p.Ter165Gly
ENST00000630659.2:c.*247T>G	ENSP00000486455.1:n.*247T>G
NM_024649.4:c.540T>G	NP_078925.3:p.Ser180Arg
NM_024649.5:c.540T>G MANE Select	NP_078925.3:p.Ser180Arg