Canonical Allele Identifier: CA381458866

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66287169A>C (hg19) ; chr11:g.66519698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519698A>C , CM000673.2:g.66519698A>C	GRCh38
NC_000011.9:g.66287169A>C , CM000673.1:g.66287169A>C	GRCh37
NC_000011.8:g.66043745A>C	NCBI36
NG_009093.1:g.14051A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.673A>C MANE Select	ENSP00000317469.7:p.Asn225His
ENST00000318312.11:c.673A>C	ENSP00000317469.7:p.Asn225His
ENST00000393994.4:c.673A>C	ENSP00000377563.2:p.Asn225His
ENST00000419755.3:c.784A>C	ENSP00000398526.3:p.Asn262His
ENST00000455748.6:c.433-1572A>C	ENSP00000405764.2:n.433-1572A>C
ENST00000524458.5:c.*462A>C	ENSP00000436195.1:n.*462A>C
ENST00000524907.5:n.769A>C
ENST00000525809.5:c.400A>C	ENSP00000431187.1:p.Asn134His
ENST00000526035.5:c.*376A>C	ENSP00000434197.1:n.*376A>C
ENST00000526760.5:c.*380A>C	ENSP00000432140.1:n.*380A>C
ENST00000527251.5:c.*380A>C	ENSP00000434360.1:n.*380A>C
ENST00000528543.1:n.195A>C
ENST00000529766.5:n.680A>C
ENST00000529953.5:n.325A>C
ENST00000529955.5:n.644A>C
ENST00000532283.1:n.16A>C
ENST00000532908.5:c.*333A>C	ENSP00000431866.1:n.*333A>C
ENST00000533430.5:n.451A>C
ENST00000533557.5:c.*333A>C	ENSP00000434619.1:n.*333A>C
ENST00000533644.5:c.*131A>C	ENSP00000436073.1:n.*131A>C
ENST00000630659.2:c.*380A>C	ENSP00000486455.1:n.*380A>C
NM_024649.4:c.673A>C	NP_078925.3:p.Asn225His
NM_024649.5:c.673A>C MANE Select	NP_078925.3:p.Asn225His