Canonical Allele Identifier: CA475368420

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515551-C-T
• MyVariant Identifiers: chr11:g.66283022C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515551C>T , CM000673.2:g.66515551C>T	GRCh38
NC_000011.9:g.66283022C>T , CM000673.1:g.66283022C>T	GRCh37
NC_000011.8:g.66039598C>T	NCBI36
NG_009093.1:g.9904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.444C>T MANE Select	ENSP00000317469.7:p.Asp148=
ENST00000318312.11:c.444C>T	ENSP00000317469.7:p.Asp148=
ENST00000393994.4:c.444C>T	ENSP00000377563.2:p.Asp148=
ENST00000419755.3:c.555C>T	ENSP00000398526.3:p.Asp185=
ENST00000455748.6:c.432+873C>T	ENSP00000405764.2:n.432+873C>T
ENST00000524458.5:c.*140-142C>T	ENSP00000436195.1:n.*140-142C>T
ENST00000524705.2:c.165C>T	ENSP00000436927.1:p.Asp55=
ENST00000524907.5:n.434C>T
ENST00000525809.5:c.171C>T	ENSP00000431187.1:p.Asp57=
ENST00000526035.5:c.*151C>T	ENSP00000434197.1:n.*151C>T
ENST00000526760.5:c.*151C>T	ENSP00000432140.1:n.*151C>T
ENST00000527251.5:c.*151C>T	ENSP00000434360.1:n.*151C>T
ENST00000529766.5:n.451C>T
ENST00000529953.5:n.96C>T
ENST00000529955.5:n.451-142C>T
ENST00000532908.5:c.*140-142C>T	ENSP00000431866.1:n.*140-142C>T
ENST00000533430.5:n.222C>T
ENST00000533557.5:c.*140-142C>T	ENSP00000434619.1:n.*140-142C>T
ENST00000533644.5:c.433-142C>T	ENSP00000436073.1:n.433-142C>T
ENST00000534730.5:n.456C>T
ENST00000630659.2:c.*151C>T	ENSP00000486455.1:n.*151C>T
NM_024649.4:c.444C>T	NP_078925.3:p.Asp148=
NM_024649.5:c.444C>T MANE Select	NP_078925.3:p.Asp148=