Canonical Allele Identifier: CA381455736

Gene: BBS1

Linked Data

• ClinVar Variation Id: 3133146
• ClinVar RCV Id: RCV004426039
• gnomAD v4: 11-66514438-G-T
• MyVariant Identifiers: chr11:g.66281909G>T (hg19) ; chr11:g.66514438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514438G>T , CM000673.2:g.66514438G>T	GRCh38
NC_000011.9:g.66281909G>T , CM000673.1:g.66281909G>T	GRCh37
NC_000011.8:g.66038485G>T	NCBI36
NG_009093.1:g.8791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.192G>T MANE Select	ENSP00000317469.7:p.Gln64His
ENST00000318312.11:c.192G>T	ENSP00000317469.7:p.Gln64His
ENST00000393994.4:c.192G>T	ENSP00000377563.2:p.Gln64His
ENST00000419755.3:c.303G>T	ENSP00000398526.3:p.Gln101His
ENST00000455748.6:c.192G>T	ENSP00000405764.2:p.Gln64His
ENST00000524458.5:c.67G>T	ENSP00000436195.1:p.Ala23Ser
ENST00000524705.2:c.-20-68G>T	ENSP00000436927.1:n.-20-68G>T
ENST00000524907.5:n.182G>T
ENST00000525809.5:c.160-1102G>T	ENSP00000431187.1:n.160-1102G>T
ENST00000526035.5:c.157G>T	ENSP00000434197.1:p.Ala53Ser
ENST00000526760.5:c.157G>T	ENSP00000432140.1:p.Ala53Ser
ENST00000526815.5:c.102G>T	ENSP00000436860.1:p.Gln34His
ENST00000527251.5:c.67G>T	ENSP00000434360.1:p.Ala23Ser
ENST00000529766.5:n.199G>T
ENST00000529955.5:n.210G>T
ENST00000532908.5:c.157G>T	ENSP00000431866.1:p.Ala53Ser
ENST00000533557.5:c.157G>T	ENSP00000434619.1:p.Ala53Ser
ENST00000533644.5:c.192G>T	ENSP00000436073.1:p.Gln64His
ENST00000534730.5:n.204G>T
ENST00000630659.2:c.157G>T	ENSP00000486455.1:p.Ala53Ser
NM_024649.4:c.192G>T	NP_078925.3:p.Gln64His
NM_024649.5:c.192G>T MANE Select	NP_078925.3:p.Gln64His