Canonical Allele Identifier: CA381455587

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66281888G>C (hg19) ; chr11:g.66514417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514417G>C , CM000673.2:g.66514417G>C	GRCh38
NC_000011.9:g.66281888G>C , CM000673.1:g.66281888G>C	GRCh37
NC_000011.8:g.66038464G>C	NCBI36
NG_009093.1:g.8770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.171G>C MANE Select	ENSP00000317469.7:p.Gly57=
ENST00000318312.11:c.171G>C	ENSP00000317469.7:p.Gly57=
ENST00000393994.4:c.171G>C	ENSP00000377563.2:p.Gly57=
ENST00000419755.3:c.282G>C	ENSP00000398526.3:p.Gly94=
ENST00000455748.6:c.171G>C	ENSP00000405764.2:p.Gly57=
ENST00000524458.5:c.46G>C	ENSP00000436195.1:p.Gly16Arg
ENST00000524705.2:c.-20-89G>C	ENSP00000436927.1:n.-20-89G>C
ENST00000524907.5:n.161G>C
ENST00000525809.5:c.160-1123G>C	ENSP00000431187.1:n.160-1123G>C
ENST00000526035.5:c.136G>C	ENSP00000434197.1:p.Gly46Arg
ENST00000526760.5:c.136G>C	ENSP00000432140.1:p.Gly46Arg
ENST00000526815.5:c.81G>C	ENSP00000436860.1:p.Gly27=
ENST00000527251.5:c.46G>C	ENSP00000434360.1:p.Gly16Arg
ENST00000529766.5:n.178G>C
ENST00000529955.5:n.189G>C
ENST00000532908.5:c.136G>C	ENSP00000431866.1:p.Gly46Arg
ENST00000533557.5:c.136G>C	ENSP00000434619.1:p.Gly46Arg
ENST00000533644.5:c.171G>C	ENSP00000436073.1:p.Gly57=
ENST00000534730.5:n.183G>C
ENST00000630659.2:c.136G>C	ENSP00000486455.1:p.Gly46Arg
NM_024649.4:c.171G>C	NP_078925.3:p.Gly57=
NM_024649.5:c.171G>C MANE Select	NP_078925.3:p.Gly57=