Canonical Allele Identifier: CA6123172

Gene: BBS1

Linked Data

• dbSNP Id: rs762510505
• ExAC: 11:66278124 T / G
• gnomAD v2: 11-66278124-T-G
• gnomAD v4: 11-66510653-T-G
• MyVariant Identifiers: chr11:g.66278124T>G (hg19) ; chr11:g.66510653T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510653T>G , CM000673.2:g.66510653T>G	GRCh38
NC_000011.9:g.66278124T>G , CM000673.1:g.66278124T>G	GRCh37
NC_000011.8:g.66034700T>G	NCBI36
NG_009093.1:g.5006T>G
NG_032068.1:g.35245T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.-7T>G MANE Select	ENSP00000317469.7:n.-7T>G
ENST00000318312.11:c.-7T>G	ENSP00000317469.7:n.-7T>G
ENST00000419755.3:c.159-360T>G	ENSP00000398526.3:n.159-360T>G
ENST00000455748.6:c.-7T>G	ENSP00000405764.2:n.-7T>G
ENST00000525809.5:c.-7T>G	ENSP00000431187.1:n.-7T>G
ENST00000526035.5:c.-7T>G	ENSP00000434197.1:n.-7T>G
ENST00000526760.5:c.-7T>G	ENSP00000432140.1:n.-7T>G
ENST00000526815.5:c.-403T>G	ENSP00000436860.1:n.-403T>G
ENST00000527251.5:c.-403T>G	ENSP00000434360.1:n.-403T>G
ENST00000529766.5:n.1T>G
ENST00000529955.5:n.12T>G
ENST00000532908.5:c.-7T>G	ENSP00000431866.1:n.-7T>G
ENST00000533557.5:c.-7T>G	ENSP00000434619.1:n.-7T>G
ENST00000533644.5:c.-7T>G	ENSP00000436073.1:n.-7T>G
ENST00000534730.5:n.6T>G
NM_024649.4:c.-7T>G	NP_078925.3:n.-7T>G
NM_024649.5:c.-7T>G MANE Select	NP_078925.3:n.-7T>G