Canonical Allele Identifier: CA381455609

Gene: BBS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514422T>A , CM000673.2:g.66514422T>A	GRCh38
NC_000011.9:g.66281893T>A , CM000673.1:g.66281893T>A	GRCh37
NC_000011.8:g.66038469T>A	NCBI36
NG_009093.1:g.8775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.176T>A MANE Select	ENSP00000317469.7:p.Leu59His
ENST00000318312.11:c.176T>A	ENSP00000317469.7:p.Leu59His
ENST00000393994.4:c.176T>A	ENSP00000377563.2:p.Leu59His
ENST00000419755.3:c.287T>A	ENSP00000398526.3:p.Leu96His
ENST00000455748.6:c.176T>A	ENSP00000405764.2:p.Leu59His
ENST00000524458.5:c.51T>A	ENSP00000436195.1:p.Pro17=
ENST00000524705.2:c.-20-84T>A	ENSP00000436927.1:n.-20-84T>A
ENST00000524907.5:n.166T>A
ENST00000525809.5:c.160-1118T>A	ENSP00000431187.1:n.160-1118T>A
ENST00000526035.5:c.141T>A	ENSP00000434197.1:p.Pro47=
ENST00000526760.5:c.141T>A	ENSP00000432140.1:p.Pro47=
ENST00000526815.5:c.86T>A	ENSP00000436860.1:p.Leu29His
ENST00000527251.5:c.51T>A	ENSP00000434360.1:p.Pro17=
ENST00000529766.5:n.183T>A
ENST00000529955.5:n.194T>A
ENST00000532908.5:c.141T>A	ENSP00000431866.1:p.Pro47=
ENST00000533557.5:c.141T>A	ENSP00000434619.1:p.Pro47=
ENST00000533644.5:c.176T>A	ENSP00000436073.1:p.Leu59His
ENST00000534730.5:n.188T>A
ENST00000630659.2:c.141T>A	ENSP00000486455.1:p.Pro47=
NM_024649.4:c.176T>A	NP_078925.3:p.Leu59His
NM_024649.5:c.176T>A MANE Select	NP_078925.3:p.Leu59His