Canonical Allele Identifier: CA381455494

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514406-C-G
• MyVariant Identifiers: chr11:g.66281877C>G (hg19) ; chr11:g.66514406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514406C>G , CM000673.2:g.66514406C>G	GRCh38
NC_000011.9:g.66281877C>G , CM000673.1:g.66281877C>G	GRCh37
NC_000011.8:g.66038453C>G	NCBI36
NG_009093.1:g.8759C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.160C>G MANE Select	ENSP00000317469.7:p.Leu54Val
ENST00000318312.11:c.160C>G	ENSP00000317469.7:p.Leu54Val
ENST00000393994.4:c.160C>G	ENSP00000377563.2:p.Leu54Val
ENST00000419755.3:c.271C>G	ENSP00000398526.3:p.Leu91Val
ENST00000455748.6:c.160C>G	ENSP00000405764.2:p.Leu54Val
ENST00000524458.5:c.35C>G	ENSP00000436195.1:p.Ala12Gly
ENST00000524705.2:c.-20-100C>G	ENSP00000436927.1:n.-20-100C>G
ENST00000524907.5:n.150C>G
ENST00000525809.5:c.160-1134C>G	ENSP00000431187.1:n.160-1134C>G
ENST00000526035.5:c.125C>G	ENSP00000434197.1:p.Ala42Gly
ENST00000526760.5:c.125C>G	ENSP00000432140.1:p.Ala42Gly
ENST00000526815.5:c.70C>G	ENSP00000436860.1:p.Leu24Val
ENST00000527251.5:c.35C>G	ENSP00000434360.1:p.Ala12Gly
ENST00000529766.5:n.167C>G
ENST00000529955.5:n.178C>G
ENST00000532908.5:c.125C>G	ENSP00000431866.1:p.Ala42Gly
ENST00000533557.5:c.125C>G	ENSP00000434619.1:p.Ala42Gly
ENST00000533644.5:c.160C>G	ENSP00000436073.1:p.Leu54Val
ENST00000534730.5:n.172C>G
ENST00000630659.2:c.125C>G	ENSP00000486455.1:p.Ala42Gly
NM_024649.4:c.160C>G	NP_078925.3:p.Leu54Val
NM_024649.5:c.160C>G MANE Select	NP_078925.3:p.Leu54Val