Canonical Allele Identifier: CA381456576

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66282018A>T (hg19) ; chr11:g.66514547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514547A>T , CM000673.2:g.66514547A>T	GRCh38
NC_000011.9:g.66282018A>T , CM000673.1:g.66282018A>T	GRCh37
NC_000011.8:g.66038594A>T	NCBI36
NG_009093.1:g.8900A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.301A>T MANE Select	ENSP00000317469.7:p.Thr101Ser
ENST00000318312.11:c.301A>T	ENSP00000317469.7:p.Thr101Ser
ENST00000393994.4:c.301A>T	ENSP00000377563.2:p.Thr101Ser
ENST00000419755.3:c.412A>T	ENSP00000398526.3:p.Thr138Ser
ENST00000455748.6:c.301A>T	ENSP00000405764.2:p.Thr101Ser
ENST00000524458.5:c.*8A>T	ENSP00000436195.1:n.*8A>T
ENST00000524705.2:c.22A>T	ENSP00000436927.1:p.Thr8Ser
ENST00000524907.5:n.291A>T
ENST00000525809.5:c.160-993A>T	ENSP00000431187.1:n.160-993A>T
ENST00000526035.5:c.*8A>T	ENSP00000434197.1:n.*8A>T
ENST00000526760.5:c.*8A>T	ENSP00000432140.1:n.*8A>T
ENST00000527251.5:c.*8A>T	ENSP00000434360.1:n.*8A>T
ENST00000529766.5:n.308A>T
ENST00000529955.5:n.319A>T
ENST00000532908.5:c.*8A>T	ENSP00000431866.1:n.*8A>T
ENST00000533430.5:n.79A>T
ENST00000533557.5:c.*8A>T	ENSP00000434619.1:n.*8A>T
ENST00000533644.5:c.301A>T	ENSP00000436073.1:p.Thr101Ser
ENST00000534730.5:n.313A>T
ENST00000630659.2:c.*8A>T	ENSP00000486455.1:n.*8A>T
NM_024649.4:c.301A>T	NP_078925.3:p.Thr101Ser
NM_024649.5:c.301A>T MANE Select	NP_078925.3:p.Thr101Ser