Canonical Allele Identifier: CA381456241

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66281974C>T (hg19) ; chr11:g.66514503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514503C>T , CM000673.2:g.66514503C>T	GRCh38
NC_000011.9:g.66281974C>T , CM000673.1:g.66281974C>T	GRCh37
NC_000011.8:g.66038550C>T	NCBI36
NG_009093.1:g.8856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.257C>T MANE Select	ENSP00000317469.7:p.Pro86Leu
ENST00000318312.11:c.257C>T	ENSP00000317469.7:p.Pro86Leu
ENST00000393994.4:c.257C>T	ENSP00000377563.2:p.Pro86Leu
ENST00000419755.3:c.368C>T	ENSP00000398526.3:p.Pro123Leu
ENST00000455748.6:c.257C>T	ENSP00000405764.2:p.Pro86Leu
ENST00000524458.5:c.132C>T	ENSP00000436195.1:p.Ala44=
ENST00000524705.2:c.-20-3C>T	ENSP00000436927.1:n.-20-3C>T
ENST00000524907.5:n.247C>T
ENST00000525809.5:c.160-1037C>T	ENSP00000431187.1:n.160-1037C>T
ENST00000526035.5:c.222C>T	ENSP00000434197.1:p.Ala74=
ENST00000526760.5:c.222C>T	ENSP00000432140.1:p.Ala74=
ENST00000527251.5:c.132C>T	ENSP00000434360.1:p.Ala44=
ENST00000529766.5:n.264C>T
ENST00000529955.5:n.275C>T
ENST00000532908.5:c.222C>T	ENSP00000431866.1:p.Ala74=
ENST00000533430.5:n.35C>T
ENST00000533557.5:c.222C>T	ENSP00000434619.1:p.Ala74=
ENST00000533644.5:c.257C>T	ENSP00000436073.1:p.Pro86Leu
ENST00000534730.5:n.269C>T
ENST00000630659.2:c.222C>T	ENSP00000486455.1:p.Ala74=
NM_024649.4:c.257C>T	NP_078925.3:p.Pro86Leu
NM_024649.5:c.257C>T MANE Select	NP_078925.3:p.Pro86Leu