Canonical Allele Identifier: CA381453164

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1986958
• ClinVar RCV Id: RCV002770915
• dbSNP Id: rs1222159281
• gnomAD v2: 11-66278132-T-C
• gnomAD v4: 11-66510661-T-C
• MyVariant Identifiers: chr11:g.66278132T>C (hg19) ; chr11:g.66510661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510661T>C , CM000673.2:g.66510661T>C	GRCh38
NC_000011.9:g.66278132T>C , CM000673.1:g.66278132T>C	GRCh37
NC_000011.8:g.66034708T>C	NCBI36
NG_009093.1:g.5014T>C
NG_032068.1:g.35253T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.2T>C MANE Select	ENSP00000317469.7:p.Met1Thr
ENST00000318312.11:c.2T>C	ENSP00000317469.7:p.Met1Thr
ENST00000393994.4:c.2T>C	ENSP00000377563.2:p.Met1Thr
ENST00000419755.3:c.159-352T>C	ENSP00000398526.3:n.159-352T>C
ENST00000455748.6:c.2T>C	ENSP00000405764.2:p.Met1Thr
ENST00000525809.5:c.2T>C	ENSP00000431187.1:p.Met1Thr
ENST00000526035.5:c.2T>C	ENSP00000434197.1:p.Met1Thr
ENST00000526760.5:c.2T>C	ENSP00000432140.1:p.Met1Thr
ENST00000526815.5:c.-395T>C	ENSP00000436860.1:n.-395T>C
ENST00000527251.5:c.-395T>C	ENSP00000434360.1:n.-395T>C
ENST00000529766.5:n.9T>C
ENST00000529955.5:n.20T>C
ENST00000532908.5:c.2T>C	ENSP00000431866.1:p.Met1Thr
ENST00000533557.5:c.2T>C	ENSP00000434619.1:p.Met1Thr
ENST00000533644.5:c.2T>C	ENSP00000436073.1:p.Met1Thr
ENST00000534730.5:n.14T>C
ENST00000630659.2:c.2T>C	ENSP00000486455.1:p.Met1Thr
NM_024649.4:c.2T>C	NP_078925.3:p.Met1Thr
NM_024649.5:c.2T>C MANE Select	NP_078925.3:p.Met1Thr