Canonical Allele Identifier: CA381457453

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283189A>C (hg19) ; chr11:g.66515718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515718A>C , CM000673.2:g.66515718A>C	GRCh38
NC_000011.9:g.66283189A>C , CM000673.1:g.66283189A>C	GRCh37
NC_000011.8:g.66039765A>C	NCBI36
NG_009093.1:g.10071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.505A>C MANE Select	ENSP00000317469.7:p.Ile169Leu
ENST00000318312.11:c.505A>C	ENSP00000317469.7:p.Ile169Leu
ENST00000393994.4:c.505A>C	ENSP00000377563.2:p.Ile169Leu
ENST00000419755.3:c.616A>C	ENSP00000398526.3:p.Ile206Leu
ENST00000455748.6:c.432+1040A>C	ENSP00000405764.2:n.432+1040A>C
ENST00000524458.5:c.*165A>C	ENSP00000436195.1:n.*165A>C
ENST00000524907.5:n.601A>C
ENST00000525809.5:c.232A>C	ENSP00000431187.1:p.Ile78Leu
ENST00000526035.5:c.*212A>C	ENSP00000434197.1:n.*212A>C
ENST00000526760.5:c.*212A>C	ENSP00000432140.1:n.*212A>C
ENST00000527251.5:c.*212A>C	ENSP00000434360.1:n.*212A>C
ENST00000528543.1:n.27A>C
ENST00000529766.5:n.512A>C
ENST00000529953.5:n.157A>C
ENST00000529955.5:n.476A>C
ENST00000532908.5:c.*165A>C	ENSP00000431866.1:n.*165A>C
ENST00000533430.5:n.283A>C
ENST00000533557.5:c.*165A>C	ENSP00000434619.1:n.*165A>C
ENST00000533644.5:c.458A>C	ENSP00000436073.1:p.His153Pro
ENST00000534730.5:n.517A>C
ENST00000630659.2:c.*212A>C	ENSP00000486455.1:n.*212A>C
NM_024649.4:c.505A>C	NP_078925.3:p.Ile169Leu
NM_024649.5:c.505A>C MANE Select	NP_078925.3:p.Ile169Leu