Canonical Allele Identifier: CA381453167

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66278133G>C (hg19) ; chr11:g.66510662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510662G>C , CM000673.2:g.66510662G>C	GRCh38
NC_000011.9:g.66278133G>C , CM000673.1:g.66278133G>C	GRCh37
NC_000011.8:g.66034709G>C	NCBI36
NG_009093.1:g.5015G>C
NG_032068.1:g.35254G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.3G>C MANE Select	ENSP00000317469.7:p.Met1Ile
ENST00000318312.11:c.3G>C	ENSP00000317469.7:p.Met1Ile
ENST00000393994.4:c.3G>C	ENSP00000377563.2:p.Met1Ile
ENST00000419755.3:c.159-351G>C	ENSP00000398526.3:n.159-351G>C
ENST00000455748.6:c.3G>C	ENSP00000405764.2:p.Met1Ile
ENST00000525809.5:c.3G>C	ENSP00000431187.1:p.Met1Ile
ENST00000526035.5:c.3G>C	ENSP00000434197.1:p.Met1Ile
ENST00000526760.5:c.3G>C	ENSP00000432140.1:p.Met1Ile
ENST00000526815.5:c.-394G>C	ENSP00000436860.1:n.-394G>C
ENST00000527251.5:c.-394G>C	ENSP00000434360.1:n.-394G>C
ENST00000529766.5:n.10G>C
ENST00000529955.5:n.21G>C
ENST00000532908.5:c.3G>C	ENSP00000431866.1:p.Met1Ile
ENST00000533557.5:c.3G>C	ENSP00000434619.1:p.Met1Ile
ENST00000533644.5:c.3G>C	ENSP00000436073.1:p.Met1Ile
ENST00000534730.5:n.15G>C
ENST00000630659.2:c.3G>C	ENSP00000486455.1:p.Met1Ile
NM_024649.4:c.3G>C	NP_078925.3:p.Met1Ile
NM_024649.5:c.3G>C MANE Select	NP_078925.3:p.Met1Ile