Canonical Allele Identifier: CA381453372

Gene: BBS1

Linked Data

• dbSNP Id: rs1855920301
• gnomAD v4: 11-66510706-G-A
• MyVariant Identifiers: chr11:g.66278177G>A (hg19) ; chr11:g.66510706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510706G>A , CM000673.2:g.66510706G>A	GRCh38
NC_000011.9:g.66278177G>A , CM000673.1:g.66278177G>A	GRCh37
NC_000011.8:g.66034753G>A	NCBI36
NG_009093.1:g.5059G>A
NG_032068.1:g.35298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.47G>A MANE Select	ENSP00000317469.7:p.Ser16Asn
ENST00000318312.11:c.47G>A	ENSP00000317469.7:p.Ser16Asn
ENST00000393994.4:c.47G>A	ENSP00000377563.2:p.Ser16Asn
ENST00000419755.3:c.159-307G>A	ENSP00000398526.3:n.159-307G>A
ENST00000455748.6:c.47G>A	ENSP00000405764.2:p.Ser16Asn
ENST00000524907.5:n.37G>A
ENST00000525809.5:c.47G>A	ENSP00000431187.1:p.Ser16Asn
ENST00000526035.5:c.47G>A	ENSP00000434197.1:p.Ser16Asn
ENST00000526760.5:c.47G>A	ENSP00000432140.1:p.Ser16Asn
ENST00000526815.5:c.-350G>A	ENSP00000436860.1:n.-350G>A
ENST00000527251.5:c.-350G>A	ENSP00000434360.1:n.-350G>A
ENST00000529766.5:n.54G>A
ENST00000529955.5:n.65G>A
ENST00000532908.5:c.47G>A	ENSP00000431866.1:p.Ser16Asn
ENST00000533557.5:c.47G>A	ENSP00000434619.1:p.Ser16Asn
ENST00000533644.5:c.47G>A	ENSP00000436073.1:p.Ser16Asn
ENST00000534730.5:n.59G>A
ENST00000630659.2:c.47G>A	ENSP00000486455.1:p.Ser16Asn
NM_024649.4:c.47G>A	NP_078925.3:p.Ser16Asn
NM_024649.5:c.47G>A MANE Select	NP_078925.3:p.Ser16Asn