Canonical Allele Identifier: CA13532736

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1180587
• ClinVar RCV Id: RCV001538031
• dbSNP Id: rs2276406
• gnomAD v2: 11-66283257-C-T
• gnomAD v3: 11-66515786-C-T
• gnomAD v4: 11-66515786-C-T
• MyVariant Identifiers: chr11:g.66283257C>T (hg19) ; chr11:g.66515786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515786C>T , CM000673.2:g.66515786C>T	GRCh38
NC_000011.9:g.66283257C>T , CM000673.1:g.66283257C>T	GRCh37
NC_000011.8:g.66039833C>T	NCBI36
NG_009093.1:g.10139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+55C>T MANE Select	ENSP00000317469.7:n.518+55C>T
ENST00000318312.11:c.518+55C>T	ENSP00000317469.7:n.518+55C>T
ENST00000393994.4:c.518+55C>T	ENSP00000377563.2:n.518+55C>T
ENST00000419755.3:c.629+55C>T	ENSP00000398526.3:n.629+55C>T
ENST00000455748.6:c.432+1108C>T	ENSP00000405764.2:n.432+1108C>T
ENST00000524458.5:c.*233C>T	ENSP00000436195.1:n.*233C>T
ENST00000524907.5:n.614+55C>T
ENST00000525809.5:c.245+55C>T	ENSP00000431187.1:n.245+55C>T
ENST00000526035.5:c.*225+55C>T	ENSP00000434197.1:n.*225+55C>T
ENST00000526760.5:c.*225+55C>T	ENSP00000432140.1:n.*225+55C>T
ENST00000527251.5:c.*225+55C>T	ENSP00000434360.1:n.*225+55C>T
ENST00000528543.1:n.40+55C>T
ENST00000529766.5:n.525+55C>T
ENST00000529953.5:n.170+55C>T
ENST00000529955.5:n.489+55C>T
ENST00000532908.5:c.*178+55C>T	ENSP00000431866.1:n.*178+55C>T
ENST00000533430.5:n.296+55C>T
ENST00000533557.5:c.*178+55C>T	ENSP00000434619.1:n.*178+55C>T
ENST00000533644.5:c.471+55C>T	ENSP00000436073.1:n.471+55C>T
ENST00000534730.5:n.585C>T
ENST00000630659.2:c.*225+55C>T	ENSP00000486455.1:n.*225+55C>T
NM_024649.4:c.518+55C>T	NP_078925.3:n.518+55C>T
NM_024649.5:c.518+55C>T MANE Select	NP_078925.3:n.518+55C>T