Canonical Allele Identifier: CA381455576

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514416-G-C
• MyVariant Identifiers: chr11:g.66281887G>C (hg19) ; chr11:g.66514416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514416G>C , CM000673.2:g.66514416G>C	GRCh38
NC_000011.9:g.66281887G>C , CM000673.1:g.66281887G>C	GRCh37
NC_000011.8:g.66038463G>C	NCBI36
NG_009093.1:g.8769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.170G>C MANE Select	ENSP00000317469.7:p.Gly57Ala
ENST00000318312.11:c.170G>C	ENSP00000317469.7:p.Gly57Ala
ENST00000393994.4:c.170G>C	ENSP00000377563.2:p.Gly57Ala
ENST00000419755.3:c.281G>C	ENSP00000398526.3:p.Gly94Ala
ENST00000455748.6:c.170G>C	ENSP00000405764.2:p.Gly57Ala
ENST00000524458.5:c.45G>C	ENSP00000436195.1:p.Arg15Ser
ENST00000524705.2:c.-20-90G>C	ENSP00000436927.1:n.-20-90G>C
ENST00000524907.5:n.160G>C
ENST00000525809.5:c.160-1124G>C	ENSP00000431187.1:n.160-1124G>C
ENST00000526035.5:c.135G>C	ENSP00000434197.1:p.Arg45Ser
ENST00000526760.5:c.135G>C	ENSP00000432140.1:p.Arg45Ser
ENST00000526815.5:c.80G>C	ENSP00000436860.1:p.Gly27Ala
ENST00000527251.5:c.45G>C	ENSP00000434360.1:p.Arg15Ser
ENST00000529766.5:n.177G>C
ENST00000529955.5:n.188G>C
ENST00000532908.5:c.135G>C	ENSP00000431866.1:p.Arg45Ser
ENST00000533557.5:c.135G>C	ENSP00000434619.1:p.Arg45Ser
ENST00000533644.5:c.170G>C	ENSP00000436073.1:p.Gly57Ala
ENST00000534730.5:n.182G>C
ENST00000630659.2:c.135G>C	ENSP00000486455.1:p.Arg45Ser
NM_024649.4:c.170G>C	NP_078925.3:p.Gly57Ala
NM_024649.5:c.170G>C MANE Select	NP_078925.3:p.Gly57Ala