Canonical Allele Identifier: CA6123168

Gene: BBS1

Linked Data

• dbSNP Id: rs759508980
• ExAC: 11:66278120 C / T
• gnomAD v2: 11-66278120-C-T
• gnomAD v4: 11-66510649-C-T
• MyVariant Identifiers: chr11:g.66278120C>T (hg19) ; chr11:g.66510649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510649C>T , CM000673.2:g.66510649C>T	GRCh38
NC_000011.9:g.66278120C>T , CM000673.1:g.66278120C>T	GRCh37
NC_000011.8:g.66034696C>T	NCBI36
NG_009093.1:g.5002C>T
NG_032068.1:g.35241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.-11C>T MANE Select	ENSP00000317469.7:n.-11C>T
ENST00000318312.11:c.-11C>T	ENSP00000317469.7:n.-11C>T
ENST00000419755.3:c.159-364C>T	ENSP00000398526.3:n.159-364C>T
ENST00000455748.6:c.-11C>T	ENSP00000405764.2:n.-11C>T
ENST00000525809.5:c.-11C>T	ENSP00000431187.1:n.-11C>T
ENST00000526035.5:c.-11C>T	ENSP00000434197.1:n.-11C>T
ENST00000526760.5:c.-11C>T	ENSP00000432140.1:n.-11C>T
ENST00000526815.5:c.-407C>T	ENSP00000436860.1:n.-407C>T
ENST00000527251.5:c.-407C>T	ENSP00000434360.1:n.-407C>T
ENST00000529955.5:n.8C>T
ENST00000532908.5:c.-11C>T	ENSP00000431866.1:n.-11C>T
ENST00000533557.5:c.-11C>T	ENSP00000434619.1:n.-11C>T
ENST00000533644.5:c.-11C>T	ENSP00000436073.1:n.-11C>T
ENST00000534730.5:n.2C>T
NM_024649.4:c.-11C>T	NP_078925.3:n.-11C>T
NM_024649.5:c.-11C>T MANE Select	NP_078925.3:n.-11C>T