Canonical Allele Identifier: CA381455882

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514453-G-T
• MyVariant Identifiers: chr11:g.66281924G>T (hg19) ; chr11:g.66514453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514453G>T , CM000673.2:g.66514453G>T	GRCh38
NC_000011.9:g.66281924G>T , CM000673.1:g.66281924G>T	GRCh37
NC_000011.8:g.66038500G>T	NCBI36
NG_009093.1:g.8806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.207G>T MANE Select	ENSP00000317469.7:p.Lys69Asn
ENST00000318312.11:c.207G>T	ENSP00000317469.7:p.Lys69Asn
ENST00000393994.4:c.207G>T	ENSP00000377563.2:p.Lys69Asn
ENST00000419755.3:c.318G>T	ENSP00000398526.3:p.Lys106Asn
ENST00000455748.6:c.207G>T	ENSP00000405764.2:p.Lys69Asn
ENST00000524458.5:c.82G>T	ENSP00000436195.1:p.Gly28Cys
ENST00000524705.2:c.-20-53G>T	ENSP00000436927.1:n.-20-53G>T
ENST00000524907.5:n.197G>T
ENST00000525809.5:c.160-1087G>T	ENSP00000431187.1:n.160-1087G>T
ENST00000526035.5:c.172G>T	ENSP00000434197.1:p.Gly58Cys
ENST00000526760.5:c.172G>T	ENSP00000432140.1:p.Gly58Cys
ENST00000526815.5:c.117G>T	ENSP00000436860.1:p.Lys39Asn
ENST00000527251.5:c.82G>T	ENSP00000434360.1:p.Gly28Cys
ENST00000529766.5:n.214G>T
ENST00000529955.5:n.225G>T
ENST00000532908.5:c.172G>T	ENSP00000431866.1:p.Gly58Cys
ENST00000533557.5:c.172G>T	ENSP00000434619.1:p.Gly58Cys
ENST00000533644.5:c.207G>T	ENSP00000436073.1:p.Lys69Asn
ENST00000534730.5:n.219G>T
ENST00000630659.2:c.172G>T	ENSP00000486455.1:p.Gly58Cys
NM_024649.4:c.207G>T	NP_078925.3:p.Lys69Asn
NM_024649.5:c.207G>T MANE Select	NP_078925.3:p.Lys69Asn