Canonical Allele Identifier: CA16041519

Gene: BBS1

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)

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