Canonical Allele Identifier: CA381457317

Gene: BBS1

Linked Data

• ClinVar Variation Id: 2701662
• ClinVar RCV Id: RCV003523992
• MyVariant Identifiers: chr11:g.66283027T>A (hg19) ; chr11:g.66515556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515556T>A , CM000673.2:g.66515556T>A	GRCh38
NC_000011.9:g.66283027T>A , CM000673.1:g.66283027T>A	GRCh37
NC_000011.8:g.66039603T>A	NCBI36
NG_009093.1:g.9909T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.449T>A MANE Select	ENSP00000317469.7:p.Leu150Ter
ENST00000318312.11:c.449T>A	ENSP00000317469.7:p.Leu150Ter
ENST00000393994.4:c.449T>A	ENSP00000377563.2:p.Leu150Ter
ENST00000419755.3:c.560T>A	ENSP00000398526.3:p.Leu187Ter
ENST00000455748.6:c.432+878T>A	ENSP00000405764.2:n.432+878T>A
ENST00000524458.5:c.*140-137T>A	ENSP00000436195.1:n.*140-137T>A
ENST00000524705.2:c.170T>A	ENSP00000436927.1:p.Leu57Ter
ENST00000524907.5:n.439T>A
ENST00000525809.5:c.176T>A	ENSP00000431187.1:p.Leu59Ter
ENST00000526035.5:c.*156T>A	ENSP00000434197.1:n.*156T>A
ENST00000526760.5:c.*156T>A	ENSP00000432140.1:n.*156T>A
ENST00000527251.5:c.*156T>A	ENSP00000434360.1:n.*156T>A
ENST00000529766.5:n.456T>A
ENST00000529953.5:n.101T>A
ENST00000529955.5:n.451-137T>A
ENST00000532908.5:c.*140-137T>A	ENSP00000431866.1:n.*140-137T>A
ENST00000533430.5:n.227T>A
ENST00000533557.5:c.*140-137T>A	ENSP00000434619.1:n.*140-137T>A
ENST00000533644.5:c.433-137T>A	ENSP00000436073.1:n.433-137T>A
ENST00000534730.5:n.461T>A
ENST00000630659.2:c.*156T>A	ENSP00000486455.1:n.*156T>A
NM_024649.4:c.449T>A	NP_078925.3:p.Leu150Ter
NM_024649.5:c.449T>A MANE Select	NP_078925.3:p.Leu150Ter