Canonical Allele Identifier: CA381461377

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66523481-A-G
• MyVariant Identifiers: chr11:g.66290952A>G (hg19) ; chr11:g.66523481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523481A>G , CM000673.2:g.66523481A>G	GRCh38
NC_000011.9:g.66290952A>G , CM000673.1:g.66290952A>G	GRCh37
NC_000011.8:g.66047528A>G	NCBI36
NG_009093.1:g.17834A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.856A>G (BBS1) MANE Select	ENSP00000317469.7:p.Ile286Val
ENST00000318312.11:c.856A>G (BBS1)	ENSP00000317469.7:p.Ile286Val
ENST00000393994.4:c.724-2642A>G (BBS1)	ENSP00000377563.2:n.724-2642A>G
ENST00000419755.3:c.967A>G	ENSP00000398526.3:p.Ile323Val
ENST00000455748.6:c.565A>G (BBS1)	ENSP00000405764.2:p.Ile189Val
ENST00000524458.5:c.*645A>G (BBS1)	ENSP00000436195.1:n.*645A>G
ENST00000524884.1:n.541A>G (BBS1)
ENST00000526760.5:c.*563A>G (BBS1)	ENSP00000432140.1:n.*563A>G
ENST00000526986.5:c.*22-2015T>C (ZDHHC24)	ENSP00000431321.1:n.*22-2015T>C
ENST00000529766.5:n.863A>G (BBS1)
ENST00000529895.1:n.305A>G (BBS1)
ENST00000529955.5:n.827A>G (BBS1)
ENST00000532908.5:c.*516A>G (BBS1)	ENSP00000431866.1:n.*516A>G
ENST00000533557.5:c.*710A>G (BBS1)	ENSP00000434619.1:n.*710A>G
ENST00000533644.5:c.*314A>G (BBS1)	ENSP00000436073.1:n.*314A>G
ENST00000534073.5:c.*143+674T>C (ZDHHC24)	ENSP00000436503.1:n.*143+674T>C
ENST00000630659.2:c.*563A>G (BBS1)	ENSP00000486455.1:n.*563A>G
NM_024649.4:c.856A>G (BBS1)	NP_078925.3:p.Ile286Val
XM_005273874.3:c.*22-2015T>C (ZDHHC24)	XP_005273931.1:n.*22-2015T>C
XR_949860.1:n.808+674T>C (ZDHHC24)
NM_001348571.1:c.*22-2015T>C (ZDHHC24)	NP_001335500.1:n.*22-2015T>C
XM_005273874.4:c.*22-2015T>C (ZDHHC24)	XP_005273931.1:n.*22-2015T>C
XR_001747823.2:n.862+674T>C (ZDHHC24)
XR_949860.3:n.933+674T>C (ZDHHC24)
NM_024649.5:c.856A>G (BBS1) MANE Select	NP_078925.3:p.Ile286Val
NM_001348571.2:c.*22-2015T>C (ZDHHC24)	NP_001335500.1:n.*22-2015T>C