Canonical Allele Identifier: CA381457550

Gene: BBS1

Linked Data

• dbSNP Id: rs1454089684
• gnomAD v2: 11-66283358-T-C
• gnomAD v4: 11-66515887-T-C
• MyVariant Identifiers: chr11:g.66283358T>C (hg19) ; chr11:g.66515887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515887T>C , CM000673.2:g.66515887T>C	GRCh38
NC_000011.9:g.66283358T>C , CM000673.1:g.66283358T>C	GRCh37
NC_000011.8:g.66039934T>C	NCBI36
NG_009093.1:g.10240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.545T>C MANE Select	ENSP00000317469.7:p.Met182Thr
ENST00000318312.11:c.545T>C	ENSP00000317469.7:p.Met182Thr
ENST00000393994.4:c.545T>C	ENSP00000377563.2:p.Met182Thr
ENST00000419755.3:c.656T>C	ENSP00000398526.3:p.Met219Thr
ENST00000455748.6:c.432+1209T>C	ENSP00000405764.2:n.432+1209T>C
ENST00000524458.5:c.*334T>C	ENSP00000436195.1:n.*334T>C
ENST00000524907.5:n.641T>C
ENST00000525809.5:c.272T>C	ENSP00000431187.1:p.Met91Thr
ENST00000526035.5:c.*252T>C	ENSP00000434197.1:n.*252T>C
ENST00000526760.5:c.*252T>C	ENSP00000432140.1:n.*252T>C
ENST00000527251.5:c.*252T>C	ENSP00000434360.1:n.*252T>C
ENST00000528543.1:n.67T>C
ENST00000529766.5:n.552T>C
ENST00000529953.5:n.197T>C
ENST00000529955.5:n.516T>C
ENST00000532908.5:c.*205T>C	ENSP00000431866.1:n.*205T>C
ENST00000533430.5:n.323T>C
ENST00000533557.5:c.*205T>C	ENSP00000434619.1:n.*205T>C
ENST00000533644.5:c.*3T>C	ENSP00000436073.1:n.*3T>C
ENST00000630659.2:c.*252T>C	ENSP00000486455.1:n.*252T>C
NM_024649.4:c.545T>C	NP_078925.3:p.Met182Thr
NM_024649.5:c.545T>C MANE Select	NP_078925.3:p.Met182Thr