Canonical Allele Identifier: CA2614498073

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514371-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514371C>T , CM000673.2:g.66514371C>T	GRCh38
NC_000011.9:g.66281842C>T , CM000673.1:g.66281842C>T	GRCh37
NC_000011.8:g.66038418C>T	NCBI36
NG_009093.1:g.8724C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.160-35C>T MANE Select	ENSP00000317469.7:n.160-35C>T
ENST00000318312.11:c.160-35C>T	ENSP00000317469.7:n.160-35C>T
ENST00000393994.4:c.160-35C>T	ENSP00000377563.2:n.160-35C>T
ENST00000419755.3:c.271-35C>T	ENSP00000398526.3:n.271-35C>T
ENST00000455748.6:c.160-35C>T	ENSP00000405764.2:n.160-35C>T
ENST00000524458.5:c.35-35C>T	ENSP00000436195.1:n.35-35C>T
ENST00000524705.2:c.-20-135C>T	ENSP00000436927.1:n.-20-135C>T
ENST00000524907.5:n.150-35C>T
ENST00000525809.5:c.160-1169C>T	ENSP00000431187.1:n.160-1169C>T
ENST00000526035.5:c.125-35C>T	ENSP00000434197.1:n.125-35C>T
ENST00000526760.5:c.125-35C>T	ENSP00000432140.1:n.125-35C>T
ENST00000526815.5:c.70-35C>T	ENSP00000436860.1:n.70-35C>T
ENST00000527251.5:c.35-35C>T	ENSP00000434360.1:n.35-35C>T
ENST00000529766.5:n.167-35C>T
ENST00000529955.5:n.178-35C>T
ENST00000532908.5:c.125-35C>T	ENSP00000431866.1:n.125-35C>T
ENST00000533557.5:c.125-35C>T	ENSP00000434619.1:n.125-35C>T
ENST00000533644.5:c.160-35C>T	ENSP00000436073.1:n.160-35C>T
ENST00000534730.5:n.172-35C>T
ENST00000630659.2:c.125-35C>T	ENSP00000486455.1:n.125-35C>T
NM_024649.4:c.160-35C>T	NP_078925.3:n.160-35C>T
NM_024649.5:c.160-35C>T MANE Select	NP_078925.3:n.160-35C>T