Canonical Allele Identifier: CA599875445
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1370158643

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66515631C>T , CM000673.2:g.66515631C>T GRCh38
NC_000011.9:g.66283102C>T , CM000673.1:g.66283102C>T GRCh37
NC_000011.8:g.66039678C>T NCBI36
NG_009093.1:g.9984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.479+45C>T MANE Select ENSP00000317469.7:n.479+45C>T
ENST00000318312.11:c.479+45C>T ENSP00000317469.7:n.479+45C>T
ENST00000393994.4:c.479+45C>T ENSP00000377563.2:n.479+45C>T
ENST00000419755.3:c.590+45C>T ENSP00000398526.3:n.590+45C>T
ENST00000455748.6:c.432+953C>T ENSP00000405764.2:n.432+953C>T
ENST00000524458.5:c.*140-62C>T ENSP00000436195.1:n.*140-62C>T
ENST00000524907.5:n.514C>T
ENST00000525809.5:c.206+45C>T ENSP00000431187.1:n.206+45C>T
ENST00000526035.5:c.*186+45C>T ENSP00000434197.1:n.*186+45C>T
ENST00000526760.5:c.*186+45C>T ENSP00000432140.1:n.*186+45C>T
ENST00000527251.5:c.*186+45C>T ENSP00000434360.1:n.*186+45C>T
ENST00000529766.5:n.486+45C>T
ENST00000529953.5:n.131+45C>T
ENST00000529955.5:n.451-62C>T
ENST00000532908.5:c.*140-62C>T ENSP00000431866.1:n.*140-62C>T
ENST00000533430.5:n.257+45C>T
ENST00000533557.5:c.*140-62C>T ENSP00000434619.1:n.*140-62C>T
ENST00000533644.5:c.433-62C>T ENSP00000436073.1:n.433-62C>T
ENST00000534730.5:n.491+45C>T
ENST00000630659.2:c.*186+45C>T ENSP00000486455.1:n.*186+45C>T
NM_024649.4:c.479+45C>T NP_078925.3:n.479+45C>T
NM_024649.5:c.479+45C>T MANE Select NP_078925.3:n.479+45C>T