Canonical Allele Identifier: CA381456081

Gene: BBS1

Linked Data

• ClinVar Variation Id: 851968
• ClinVar RCV Id: RCV001056484
• dbSNP Id: rs138744839
• MyVariant Identifiers: chr11:g.66281952G>T (hg19) ; chr11:g.66514481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514481G>T , CM000673.2:g.66514481G>T	GRCh38
NC_000011.9:g.66281952G>T , CM000673.1:g.66281952G>T	GRCh37
NC_000011.8:g.66038528G>T	NCBI36
NG_009093.1:g.8834G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.235G>T MANE Select	ENSP00000317469.7:p.Glu79Ter
ENST00000318312.11:c.235G>T	ENSP00000317469.7:p.Glu79Ter
ENST00000393994.4:c.235G>T	ENSP00000377563.2:p.Glu79Ter
ENST00000419755.3:c.346G>T	ENSP00000398526.3:p.Glu116Ter
ENST00000455748.6:c.235G>T	ENSP00000405764.2:p.Glu79Ter
ENST00000524458.5:c.110G>T	ENSP00000436195.1:p.Arg37Leu
ENST00000524705.2:c.-20-25G>T	ENSP00000436927.1:n.-20-25G>T
ENST00000524907.5:n.225G>T
ENST00000525809.5:c.160-1059G>T	ENSP00000431187.1:n.160-1059G>T
ENST00000526035.5:c.200G>T	ENSP00000434197.1:p.Arg67Leu
ENST00000526760.5:c.200G>T	ENSP00000432140.1:p.Arg67Leu
ENST00000526815.5:c.145G>T	ENSP00000436860.1:p.Glu49Ter
ENST00000527251.5:c.110G>T	ENSP00000434360.1:p.Arg37Leu
ENST00000529766.5:n.242G>T
ENST00000529955.5:n.253G>T
ENST00000532908.5:c.200G>T	ENSP00000431866.1:p.Arg67Leu
ENST00000533430.5:n.13G>T
ENST00000533557.5:c.200G>T	ENSP00000434619.1:p.Arg67Leu
ENST00000533644.5:c.235G>T	ENSP00000436073.1:p.Glu79Ter
ENST00000534730.5:n.247G>T
ENST00000630659.2:c.200G>T	ENSP00000486455.1:p.Arg67Leu
NM_024649.4:c.235G>T	NP_078925.3:p.Glu79Ter
NM_024649.5:c.235G>T MANE Select	NP_078925.3:p.Glu79Ter