Canonical Allele Identifier: CA381456319

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66281985G>C (hg19) ; chr11:g.66514514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514514G>C , CM000673.2:g.66514514G>C	GRCh38
NC_000011.9:g.66281985G>C , CM000673.1:g.66281985G>C	GRCh37
NC_000011.8:g.66038561G>C	NCBI36
NG_009093.1:g.8867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.268G>C MANE Select	ENSP00000317469.7:p.Ala90Pro
ENST00000318312.11:c.268G>C	ENSP00000317469.7:p.Ala90Pro
ENST00000393994.4:c.268G>C	ENSP00000377563.2:p.Ala90Pro
ENST00000419755.3:c.379G>C	ENSP00000398526.3:p.Ala127Pro
ENST00000455748.6:c.268G>C	ENSP00000405764.2:p.Ala90Pro
ENST00000524458.5:c.143G>C	ENSP00000436195.1:p.Cys48Ser
ENST00000524705.2:c.-12G>C	ENSP00000436927.1:n.-12G>C
ENST00000524907.5:n.258G>C
ENST00000525809.5:c.160-1026G>C	ENSP00000431187.1:n.160-1026G>C
ENST00000526035.5:c.233G>C	ENSP00000434197.1:p.Cys78Ser
ENST00000526760.5:c.233G>C	ENSP00000432140.1:p.Cys78Ser
ENST00000527251.5:c.143G>C	ENSP00000434360.1:p.Cys48Ser
ENST00000529766.5:n.275G>C
ENST00000529955.5:n.286G>C
ENST00000532908.5:c.233G>C	ENSP00000431866.1:p.Cys78Ser
ENST00000533430.5:n.46G>C
ENST00000533557.5:c.233G>C	ENSP00000434619.1:p.Cys78Ser
ENST00000533644.5:c.268G>C	ENSP00000436073.1:p.Ala90Pro
ENST00000534730.5:n.280G>C
ENST00000630659.2:c.233G>C	ENSP00000486455.1:p.Cys78Ser
NM_024649.4:c.268G>C	NP_078925.3:p.Ala90Pro
NM_024649.5:c.268G>C MANE Select	NP_078925.3:p.Ala90Pro