Canonical Allele Identifier: CA381456601

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514553-G-C
• MyVariant Identifiers: chr11:g.66282024G>C (hg19) ; chr11:g.66514553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514553G>C , CM000673.2:g.66514553G>C	GRCh38
NC_000011.9:g.66282024G>C , CM000673.1:g.66282024G>C	GRCh37
NC_000011.8:g.66038600G>C	NCBI36
NG_009093.1:g.8906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.307G>C MANE Select	ENSP00000317469.7:p.Ala103Pro
ENST00000318312.11:c.307G>C	ENSP00000317469.7:p.Ala103Pro
ENST00000393994.4:c.307G>C	ENSP00000377563.2:p.Ala103Pro
ENST00000419755.3:c.418G>C	ENSP00000398526.3:p.Ala140Pro
ENST00000455748.6:c.307G>C	ENSP00000405764.2:p.Ala103Pro
ENST00000524458.5:c.*14G>C	ENSP00000436195.1:n.*14G>C
ENST00000524705.2:c.28G>C	ENSP00000436927.1:p.Ala10Pro
ENST00000524907.5:n.297G>C
ENST00000525809.5:c.160-987G>C	ENSP00000431187.1:n.160-987G>C
ENST00000526035.5:c.*14G>C	ENSP00000434197.1:n.*14G>C
ENST00000526760.5:c.*14G>C	ENSP00000432140.1:n.*14G>C
ENST00000527251.5:c.*14G>C	ENSP00000434360.1:n.*14G>C
ENST00000529766.5:n.314G>C
ENST00000529955.5:n.325G>C
ENST00000532908.5:c.*14G>C	ENSP00000431866.1:n.*14G>C
ENST00000533430.5:n.85G>C
ENST00000533557.5:c.*14G>C	ENSP00000434619.1:n.*14G>C
ENST00000533644.5:c.307G>C	ENSP00000436073.1:p.Ala103Pro
ENST00000534730.5:n.319G>C
ENST00000630659.2:c.*14G>C	ENSP00000486455.1:n.*14G>C
NM_024649.4:c.307G>C	NP_078925.3:p.Ala103Pro
NM_024649.5:c.307G>C MANE Select	NP_078925.3:p.Ala103Pro