Canonical Allele Identifier: CA381457392

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283059T>C (hg19) ; chr11:g.66515588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515588T>C , CM000673.2:g.66515588T>C	GRCh38
NC_000011.9:g.66283059T>C , CM000673.1:g.66283059T>C	GRCh37
NC_000011.8:g.66039635T>C	NCBI36
NG_009093.1:g.9941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+2T>C MANE Select	ENSP00000317469.7:n.479+2T>C
ENST00000318312.11:c.479+2T>C	ENSP00000317469.7:n.479+2T>C
ENST00000393994.4:c.479+2T>C	ENSP00000377563.2:n.479+2T>C
ENST00000419755.3:c.590+2T>C	ENSP00000398526.3:n.590+2T>C
ENST00000455748.6:c.432+910T>C	ENSP00000405764.2:n.432+910T>C
ENST00000524458.5:c.*140-105T>C	ENSP00000436195.1:n.*140-105T>C
ENST00000524907.5:n.471T>C
ENST00000525809.5:c.206+2T>C	ENSP00000431187.1:n.206+2T>C
ENST00000526035.5:c.*186+2T>C	ENSP00000434197.1:n.*186+2T>C
ENST00000526760.5:c.*186+2T>C	ENSP00000432140.1:n.*186+2T>C
ENST00000527251.5:c.*186+2T>C	ENSP00000434360.1:n.*186+2T>C
ENST00000529766.5:n.486+2T>C
ENST00000529953.5:n.131+2T>C
ENST00000529955.5:n.451-105T>C
ENST00000532908.5:c.*140-105T>C	ENSP00000431866.1:n.*140-105T>C
ENST00000533430.5:n.257+2T>C
ENST00000533557.5:c.*140-105T>C	ENSP00000434619.1:n.*140-105T>C
ENST00000533644.5:c.433-105T>C	ENSP00000436073.1:n.433-105T>C
ENST00000534730.5:n.491+2T>C
ENST00000630659.2:c.*186+2T>C	ENSP00000486455.1:n.*186+2T>C
NM_024649.4:c.479+2T>C	NP_078925.3:n.479+2T>C
NM_024649.5:c.479+2T>C MANE Select	NP_078925.3:n.479+2T>C