Canonical Allele Identifier: CA381455944

Gene: BBS1

Linked Data

• ClinVar Variation Id: 943228
• ClinVar RCV Id: RCV001213374 ; RCV002561812 ; RCV003462716
• dbSNP Id: rs1012901050
• gnomAD v4: 11-66514463-G-T
• MyVariant Identifiers: chr11:g.66281934G>T (hg19) ; chr11:g.66514463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514463G>T , CM000673.2:g.66514463G>T	GRCh38
NC_000011.9:g.66281934G>T , CM000673.1:g.66281934G>T	GRCh37
NC_000011.8:g.66038510G>T	NCBI36
NG_009093.1:g.8816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.217G>T MANE Select	ENSP00000317469.7:p.Gly73Ter
ENST00000318312.11:c.217G>T	ENSP00000317469.7:p.Gly73Ter
ENST00000393994.4:c.217G>T	ENSP00000377563.2:p.Gly73Ter
ENST00000419755.3:c.328G>T	ENSP00000398526.3:p.Gly110Ter
ENST00000455748.6:c.217G>T	ENSP00000405764.2:p.Gly73Ter
ENST00000524458.5:c.92G>T	ENSP00000436195.1:p.Arg31Met
ENST00000524705.2:c.-20-43G>T	ENSP00000436927.1:n.-20-43G>T
ENST00000524907.5:n.207G>T
ENST00000525809.5:c.160-1077G>T	ENSP00000431187.1:n.160-1077G>T
ENST00000526035.5:c.182G>T	ENSP00000434197.1:p.Arg61Met
ENST00000526760.5:c.182G>T	ENSP00000432140.1:p.Arg61Met
ENST00000526815.5:c.127G>T	ENSP00000436860.1:p.Gly43Ter
ENST00000527251.5:c.92G>T	ENSP00000434360.1:p.Arg31Met
ENST00000529766.5:n.224G>T
ENST00000529955.5:n.235G>T
ENST00000532908.5:c.182G>T	ENSP00000431866.1:p.Arg61Met
ENST00000533557.5:c.182G>T	ENSP00000434619.1:p.Arg61Met
ENST00000533644.5:c.217G>T	ENSP00000436073.1:p.Gly73Ter
ENST00000534730.5:n.229G>T
ENST00000630659.2:c.182G>T	ENSP00000486455.1:p.Arg61Met
NM_024649.4:c.217G>T	NP_078925.3:p.Gly73Ter
NM_024649.5:c.217G>T MANE Select	NP_078925.3:p.Gly73Ter