Canonical Allele Identifier: CA381457355

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283043G>C (hg19) ; chr11:g.66515572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515572G>C , CM000673.2:g.66515572G>C	GRCh38
NC_000011.9:g.66283043G>C , CM000673.1:g.66283043G>C	GRCh37
NC_000011.8:g.66039619G>C	NCBI36
NG_009093.1:g.9925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.465G>C MANE Select	ENSP00000317469.7:p.Met155Ile
ENST00000318312.11:c.465G>C	ENSP00000317469.7:p.Met155Ile
ENST00000393994.4:c.465G>C	ENSP00000377563.2:p.Met155Ile
ENST00000419755.3:c.576G>C	ENSP00000398526.3:p.Met192Ile
ENST00000455748.6:c.432+894G>C	ENSP00000405764.2:n.432+894G>C
ENST00000524458.5:c.*140-121G>C	ENSP00000436195.1:n.*140-121G>C
ENST00000524705.2:c.186G>C	ENSP00000436927.1:p.Met62Ile
ENST00000524907.5:n.455G>C
ENST00000525809.5:c.192G>C	ENSP00000431187.1:p.Met64Ile
ENST00000526035.5:c.*172G>C	ENSP00000434197.1:n.*172G>C
ENST00000526760.5:c.*172G>C	ENSP00000432140.1:n.*172G>C
ENST00000527251.5:c.*172G>C	ENSP00000434360.1:n.*172G>C
ENST00000529766.5:n.472G>C
ENST00000529953.5:n.117G>C
ENST00000529955.5:n.451-121G>C
ENST00000532908.5:c.*140-121G>C	ENSP00000431866.1:n.*140-121G>C
ENST00000533430.5:n.243G>C
ENST00000533557.5:c.*140-121G>C	ENSP00000434619.1:n.*140-121G>C
ENST00000533644.5:c.433-121G>C	ENSP00000436073.1:n.433-121G>C
ENST00000534730.5:n.477G>C
ENST00000630659.2:c.*172G>C	ENSP00000486455.1:n.*172G>C
NM_024649.4:c.465G>C	NP_078925.3:p.Met155Ile
NM_024649.5:c.465G>C MANE Select	NP_078925.3:p.Met155Ile