Canonical Allele Identifier: CA381456210

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514497-C-T
• MyVariant Identifiers: chr11:g.66281968C>T (hg19) ; chr11:g.66514497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514497C>T , CM000673.2:g.66514497C>T	GRCh38
NC_000011.9:g.66281968C>T , CM000673.1:g.66281968C>T	GRCh37
NC_000011.8:g.66038544C>T	NCBI36
NG_009093.1:g.8850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.251C>T MANE Select	ENSP00000317469.7:p.Ala84Val
ENST00000318312.11:c.251C>T	ENSP00000317469.7:p.Ala84Val
ENST00000393994.4:c.251C>T	ENSP00000377563.2:p.Ala84Val
ENST00000419755.3:c.362C>T	ENSP00000398526.3:p.Ala121Val
ENST00000455748.6:c.251C>T	ENSP00000405764.2:p.Ala84Val
ENST00000524458.5:c.126C>T	ENSP00000436195.1:p.Cys42=
ENST00000524705.2:c.-20-9C>T	ENSP00000436927.1:n.-20-9C>T
ENST00000524907.5:n.241C>T
ENST00000525809.5:c.160-1043C>T	ENSP00000431187.1:n.160-1043C>T
ENST00000526035.5:c.216C>T	ENSP00000434197.1:p.Cys72=
ENST00000526760.5:c.216C>T	ENSP00000432140.1:p.Cys72=
ENST00000526815.5:c.161C>T	ENSP00000436860.1:p.Ala54Val
ENST00000527251.5:c.126C>T	ENSP00000434360.1:p.Cys42=
ENST00000529766.5:n.258C>T
ENST00000529955.5:n.269C>T
ENST00000532908.5:c.216C>T	ENSP00000431866.1:p.Cys72=
ENST00000533430.5:n.29C>T
ENST00000533557.5:c.216C>T	ENSP00000434619.1:p.Cys72=
ENST00000533644.5:c.251C>T	ENSP00000436073.1:p.Ala84Val
ENST00000534730.5:n.263C>T
ENST00000630659.2:c.216C>T	ENSP00000486455.1:p.Cys72=
NM_024649.4:c.251C>T	NP_078925.3:p.Ala84Val
NM_024649.5:c.251C>T MANE Select	NP_078925.3:p.Ala84Val