Canonical Allele Identifier: CA381456586

Gene: BBS1

Linked Data

• dbSNP Id: rs1856009814
• gnomAD v3: 11-66514548-C-T
• gnomAD v4: 11-66514548-C-T
• MyVariant Identifiers: chr11:g.66282019C>T (hg19) ; chr11:g.66514548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514548C>T , CM000673.2:g.66514548C>T	GRCh38
NC_000011.9:g.66282019C>T , CM000673.1:g.66282019C>T	GRCh37
NC_000011.8:g.66038595C>T	NCBI36
NG_009093.1:g.8901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.302C>T MANE Select	ENSP00000317469.7:p.Thr101Ile
ENST00000318312.11:c.302C>T	ENSP00000317469.7:p.Thr101Ile
ENST00000393994.4:c.302C>T	ENSP00000377563.2:p.Thr101Ile
ENST00000419755.3:c.413C>T	ENSP00000398526.3:p.Thr138Ile
ENST00000455748.6:c.302C>T	ENSP00000405764.2:p.Thr101Ile
ENST00000524458.5:c.*9C>T	ENSP00000436195.1:n.*9C>T
ENST00000524705.2:c.23C>T	ENSP00000436927.1:p.Thr8Ile
ENST00000524907.5:n.292C>T
ENST00000525809.5:c.160-992C>T	ENSP00000431187.1:n.160-992C>T
ENST00000526035.5:c.*9C>T	ENSP00000434197.1:n.*9C>T
ENST00000526760.5:c.*9C>T	ENSP00000432140.1:n.*9C>T
ENST00000527251.5:c.*9C>T	ENSP00000434360.1:n.*9C>T
ENST00000529766.5:n.309C>T
ENST00000529955.5:n.320C>T
ENST00000532908.5:c.*9C>T	ENSP00000431866.1:n.*9C>T
ENST00000533430.5:n.80C>T
ENST00000533557.5:c.*9C>T	ENSP00000434619.1:n.*9C>T
ENST00000533644.5:c.302C>T	ENSP00000436073.1:p.Thr101Ile
ENST00000534730.5:n.314C>T
ENST00000630659.2:c.*9C>T	ENSP00000486455.1:n.*9C>T
NM_024649.4:c.302C>T	NP_078925.3:p.Thr101Ile
NM_024649.5:c.302C>T MANE Select	NP_078925.3:p.Thr101Ile