Canonical Allele Identifier: CA16041518

Gene: BBS1

Linked Data

• ClinVar Variation Id: 370386
• ClinVar RCV Id: RCV000411354 ; RCV003522961
• dbSNP Id: rs1057516449
• gnomAD v3: 11-66511090-G-C
• gnomAD v4: 11-66511090-G-C
• MyVariant Identifiers: chr11:g.66278561G>C (hg19) ; chr11:g.66511090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511090G>C , CM000673.2:g.66511090G>C	GRCh38
NC_000011.9:g.66278561G>C , CM000673.1:g.66278561G>C	GRCh37
NC_000011.8:g.66035137G>C	NCBI36
NG_009093.1:g.5443G>C
NG_032068.1:g.35682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.124+1G>C MANE Select	ENSP00000317469.7:n.124+1G>C
ENST00000318312.11:c.124+1G>C	ENSP00000317469.7:n.124+1G>C
ENST00000393994.4:c.124+1G>C	ENSP00000377563.2:n.124+1G>C
ENST00000419755.3:c.235+1G>C	ENSP00000398526.3:n.235+1G>C
ENST00000455748.6:c.124+1G>C	ENSP00000405764.2:n.124+1G>C
ENST00000524458.5:c.34+1G>C	ENSP00000436195.1:n.34+1G>C
ENST00000524705.2:c.-56+1G>C	ENSP00000436927.1:n.-56+1G>C
ENST00000524907.5:n.114+1G>C
ENST00000525809.5:c.124+1G>C	ENSP00000431187.1:n.124+1G>C
ENST00000526035.5:c.124+1G>C	ENSP00000434197.1:n.124+1G>C
ENST00000526760.5:c.124+1G>C	ENSP00000432140.1:n.124+1G>C
ENST00000526815.5:c.34+1G>C	ENSP00000436860.1:n.34+1G>C
ENST00000527251.5:c.34+1G>C	ENSP00000434360.1:n.34+1G>C
ENST00000529766.5:n.131+1G>C
ENST00000529955.5:n.142+1G>C
ENST00000532908.5:c.124+1G>C	ENSP00000431866.1:n.124+1G>C
ENST00000533557.5:c.124+1G>C	ENSP00000434619.1:n.124+1G>C
ENST00000533644.5:c.124+1G>C	ENSP00000436073.1:n.124+1G>C
ENST00000534730.5:n.136+1G>C
ENST00000630659.2:c.124+1G>C	ENSP00000486455.1:n.124+1G>C
NM_024649.4:c.124+1G>C	NP_078925.3:n.124+1G>C
NM_024649.5:c.124+1G>C MANE Select	NP_078925.3:n.124+1G>C