Canonical Allele Identifier: CA224073690

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1441778
• ClinVar RCV Id: RCV001950722
• dbSNP Id: rs879524751
• gnomAD v2: 11-66283042-T-C
• gnomAD v3: 11-66515571-T-C
• gnomAD v4: 11-66515571-T-C
• MyVariant Identifiers: chr11:g.66283042T>C (hg19) ; chr11:g.66515571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515571T>C , CM000673.2:g.66515571T>C	GRCh38
NC_000011.9:g.66283042T>C , CM000673.1:g.66283042T>C	GRCh37
NC_000011.8:g.66039618T>C	NCBI36
NG_009093.1:g.9924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.464T>C MANE Select	ENSP00000317469.7:p.Met155Thr
ENST00000318312.11:c.464T>C	ENSP00000317469.7:p.Met155Thr
ENST00000393994.4:c.464T>C	ENSP00000377563.2:p.Met155Thr
ENST00000419755.3:c.575T>C	ENSP00000398526.3:p.Met192Thr
ENST00000455748.6:c.432+893T>C	ENSP00000405764.2:n.432+893T>C
ENST00000524458.5:c.*140-122T>C	ENSP00000436195.1:n.*140-122T>C
ENST00000524705.2:c.185T>C	ENSP00000436927.1:p.Met62Thr
ENST00000524907.5:n.454T>C
ENST00000525809.5:c.191T>C	ENSP00000431187.1:p.Met64Thr
ENST00000526035.5:c.*171T>C	ENSP00000434197.1:n.*171T>C
ENST00000526760.5:c.*171T>C	ENSP00000432140.1:n.*171T>C
ENST00000527251.5:c.*171T>C	ENSP00000434360.1:n.*171T>C
ENST00000529766.5:n.471T>C
ENST00000529953.5:n.116T>C
ENST00000529955.5:n.451-122T>C
ENST00000532908.5:c.*140-122T>C	ENSP00000431866.1:n.*140-122T>C
ENST00000533430.5:n.242T>C
ENST00000533557.5:c.*140-122T>C	ENSP00000434619.1:n.*140-122T>C
ENST00000533644.5:c.433-122T>C	ENSP00000436073.1:n.433-122T>C
ENST00000534730.5:n.476T>C
ENST00000630659.2:c.*171T>C	ENSP00000486455.1:n.*171T>C
NM_024649.4:c.464T>C	NP_078925.3:p.Met155Thr
NM_024649.5:c.464T>C MANE Select	NP_078925.3:p.Met155Thr