Canonical Allele Identifier: CA2697548717

Gene: BBS1

Linked Data

• ClinVar Variation Id: 2705344
• ClinVar RCV Id: RCV003524105

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515602C>T , CM000673.2:g.66515602C>T	GRCh38
NC_000011.9:g.66283073C>T , CM000673.1:g.66283073C>T	GRCh37
NC_000011.8:g.66039649C>T	NCBI36
NG_009093.1:g.9955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.479+16C>T MANE Select	ENSP00000317469.7:n.479+16C>T
ENST00000318312.11:c.479+16C>T	ENSP00000317469.7:n.479+16C>T
ENST00000393994.4:c.479+16C>T	ENSP00000377563.2:n.479+16C>T
ENST00000419755.3:c.590+16C>T	ENSP00000398526.3:n.590+16C>T
ENST00000455748.6:c.432+924C>T	ENSP00000405764.2:n.432+924C>T
ENST00000524458.5:c.*140-91C>T	ENSP00000436195.1:n.*140-91C>T
ENST00000524907.5:n.485C>T
ENST00000525809.5:c.206+16C>T	ENSP00000431187.1:n.206+16C>T
ENST00000526035.5:c.*186+16C>T	ENSP00000434197.1:n.*186+16C>T
ENST00000526760.5:c.*186+16C>T	ENSP00000432140.1:n.*186+16C>T
ENST00000527251.5:c.*186+16C>T	ENSP00000434360.1:n.*186+16C>T
ENST00000529766.5:n.486+16C>T
ENST00000529953.5:n.131+16C>T
ENST00000529955.5:n.451-91C>T
ENST00000532908.5:c.*140-91C>T	ENSP00000431866.1:n.*140-91C>T
ENST00000533430.5:n.257+16C>T
ENST00000533557.5:c.*140-91C>T	ENSP00000434619.1:n.*140-91C>T
ENST00000533644.5:c.433-91C>T	ENSP00000436073.1:n.433-91C>T
ENST00000534730.5:n.491+16C>T
ENST00000630659.2:c.*186+16C>T	ENSP00000486455.1:n.*186+16C>T
NM_024649.4:c.479+16C>T	NP_078925.3:n.479+16C>T
NM_024649.5:c.479+16C>T MANE Select	NP_078925.3:n.479+16C>T