Canonical Allele Identifier: CA224071537

Gene: BBS1

Linked Data

• dbSNP Id: rs543797671
• gnomAD v3: 11-66511143-A-G
• gnomAD v4: 11-66511143-A-G
• MyVariant Identifiers: chr11:g.66278614A>G (hg19) ; chr11:g.66511143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511143A>G , CM000673.2:g.66511143A>G	GRCh38
NC_000011.9:g.66278614A>G , CM000673.1:g.66278614A>G	GRCh37
NC_000011.8:g.66035190A>G	NCBI36
NG_009093.1:g.5496A>G
NG_032068.1:g.35735A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.124+54A>G MANE Select	ENSP00000317469.7:n.124+54A>G
ENST00000318312.11:c.124+54A>G	ENSP00000317469.7:n.124+54A>G
ENST00000393994.4:c.124+54A>G	ENSP00000377563.2:n.124+54A>G
ENST00000419755.3:c.235+54A>G	ENSP00000398526.3:n.235+54A>G
ENST00000455748.6:c.124+54A>G	ENSP00000405764.2:n.124+54A>G
ENST00000524458.5:c.34+54A>G	ENSP00000436195.1:n.34+54A>G
ENST00000524705.2:c.-56+54A>G	ENSP00000436927.1:n.-56+54A>G
ENST00000524907.5:n.114+54A>G
ENST00000525809.5:c.124+54A>G	ENSP00000431187.1:n.124+54A>G
ENST00000526035.5:c.124+54A>G	ENSP00000434197.1:n.124+54A>G
ENST00000526760.5:c.124+54A>G	ENSP00000432140.1:n.124+54A>G
ENST00000526815.5:c.34+54A>G	ENSP00000436860.1:n.34+54A>G
ENST00000527251.5:c.34+54A>G	ENSP00000434360.1:n.34+54A>G
ENST00000529766.5:n.131+54A>G
ENST00000529955.5:n.142+54A>G
ENST00000532908.5:c.124+54A>G	ENSP00000431866.1:n.124+54A>G
ENST00000533557.5:c.124+54A>G	ENSP00000434619.1:n.124+54A>G
ENST00000533644.5:c.124+54A>G	ENSP00000436073.1:n.124+54A>G
ENST00000534730.5:n.136+54A>G
ENST00000630659.2:c.124+54A>G	ENSP00000486455.1:n.124+54A>G
NM_024649.4:c.124+54A>G	NP_078925.3:n.124+54A>G
NM_024649.5:c.124+54A>G MANE Select	NP_078925.3:n.124+54A>G