Canonical Allele Identifier: CA381457440

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283183T>G (hg19) ; chr11:g.66515712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515712T>G , CM000673.2:g.66515712T>G	GRCh38
NC_000011.9:g.66283183T>G , CM000673.1:g.66283183T>G	GRCh37
NC_000011.8:g.66039759T>G	NCBI36
NG_009093.1:g.10065T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.499T>G MANE Select	ENSP00000317469.7:p.Leu167Val
ENST00000318312.11:c.499T>G	ENSP00000317469.7:p.Leu167Val
ENST00000393994.4:c.499T>G	ENSP00000377563.2:p.Leu167Val
ENST00000419755.3:c.610T>G	ENSP00000398526.3:p.Leu204Val
ENST00000455748.6:c.432+1034T>G	ENSP00000405764.2:n.432+1034T>G
ENST00000524458.5:c.*159T>G	ENSP00000436195.1:n.*159T>G
ENST00000524907.5:n.595T>G
ENST00000525809.5:c.226T>G	ENSP00000431187.1:p.Leu76Val
ENST00000526035.5:c.*206T>G	ENSP00000434197.1:n.*206T>G
ENST00000526760.5:c.*206T>G	ENSP00000432140.1:n.*206T>G
ENST00000527251.5:c.*206T>G	ENSP00000434360.1:n.*206T>G
ENST00000528543.1:n.21T>G
ENST00000529766.5:n.506T>G
ENST00000529953.5:n.151T>G
ENST00000529955.5:n.470T>G
ENST00000532908.5:c.*159T>G	ENSP00000431866.1:n.*159T>G
ENST00000533430.5:n.277T>G
ENST00000533557.5:c.*159T>G	ENSP00000434619.1:n.*159T>G
ENST00000533644.5:c.452T>G	ENSP00000436073.1:p.Phe151Cys
ENST00000534730.5:n.511T>G
ENST00000630659.2:c.*206T>G	ENSP00000486455.1:n.*206T>G
NM_024649.4:c.499T>G	NP_078925.3:p.Leu167Val
NM_024649.5:c.499T>G MANE Select	NP_078925.3:p.Leu167Val