Canonical Allele Identifier: CA16041519
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370462
ClinVar RCV Id: RCV000410043
dbSNP Id: rs1057516507
MyVariant Identifiers: chr11:g.66278712T>A (hg19) chr11:g.66511241T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66511241T>A , CM000673.2:g.66511241T>A GRCh38
NC_000011.9:g.66278712T>A , CM000673.1:g.66278712T>A GRCh37
NC_000011.8:g.66035288T>A NCBI36
NG_009093.1:g.5594T>A
NG_032068.1:g.35833T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318312.12:c.159+2T>A MANE Select ENSP00000317469.7:n.159+2T>A
ENST00000318312.11:c.159+2T>A ENSP00000317469.7:n.159+2T>A
ENST00000393994.4:c.159+2T>A ENSP00000377563.2:n.159+2T>A
ENST00000419755.3:c.270+2T>A ENSP00000398526.3:n.270+2T>A
ENST00000455748.6:c.159+2T>A ENSP00000405764.2:n.159+2T>A
ENST00000524458.5:c.34+152T>A ENSP00000436195.1:n.34+152T>A
ENST00000524705.2:c.-21+2T>A ENSP00000436927.1:n.-21+2T>A
ENST00000524907.5:n.149+2T>A
ENST00000525809.5:c.159+2T>A ENSP00000431187.1:n.159+2T>A
ENST00000526035.5:c.124+152T>A ENSP00000434197.1:n.124+152T>A
ENST00000526760.5:c.124+152T>A ENSP00000432140.1:n.124+152T>A
ENST00000526815.5:c.69+2T>A ENSP00000436860.1:n.69+2T>A
ENST00000527251.5:c.34+152T>A ENSP00000434360.1:n.34+152T>A
ENST00000529766.5:n.166+2T>A
ENST00000529955.5:n.177+2T>A
ENST00000532908.5:c.124+152T>A ENSP00000431866.1:n.124+152T>A
ENST00000533557.5:c.124+152T>A ENSP00000434619.1:n.124+152T>A
ENST00000533644.5:c.159+2T>A ENSP00000436073.1:n.159+2T>A
ENST00000534730.5:n.171+2T>A
ENST00000630659.2:c.124+152T>A ENSP00000486455.1:n.124+152T>A
NM_024649.4:c.159+2T>A NP_078925.3:n.159+2T>A
NM_024649.5:c.159+2T>A MANE Select NP_078925.3:n.159+2T>A
Search 100 bp 5'
Search 100 bp 3'