Canonical Allele Identifier: CA381462414

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66523812-T-C
• MyVariant Identifiers: chr11:g.66291283T>C (hg19) ; chr11:g.66523812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523812T>C , CM000673.2:g.66523812T>C	GRCh38
NC_000011.9:g.66291283T>C , CM000673.1:g.66291283T>C	GRCh37
NC_000011.8:g.66047859T>C	NCBI36
NG_009093.1:g.18165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1040T>C (BBS1) MANE Select	ENSP00000317469.7:p.Met347Thr
ENST00000318312.11:c.1040T>C (BBS1)	ENSP00000317469.7:p.Met347Thr
ENST00000393994.4:c.724-2311T>C (BBS1)	ENSP00000377563.2:n.724-2311T>C
ENST00000419755.3:c.1151T>C	ENSP00000398526.3:p.Met384Thr
ENST00000455748.6:c.749T>C (BBS1)	ENSP00000405764.2:p.Met250Thr
ENST00000526760.5:c.*747T>C (BBS1)	ENSP00000432140.1:n.*747T>C
ENST00000526986.5:c.*22-2346A>G (ZDHHC24)	ENSP00000431321.1:n.*22-2346A>G
ENST00000527959.1:n.184T>C (BBS1)
ENST00000529766.5:n.1047T>C (BBS1)
ENST00000529895.1:n.489T>C (BBS1)
ENST00000529955.5:n.1011T>C (BBS1)
ENST00000532908.5:c.*700T>C (BBS1)	ENSP00000431866.1:n.*700T>C
ENST00000534073.5:c.*143+343A>G (ZDHHC24)	ENSP00000436503.1:n.*143+343A>G
ENST00000630659.2:c.*747T>C (BBS1)	ENSP00000486455.1:n.*747T>C
NM_024649.4:c.1040T>C (BBS1)	NP_078925.3:p.Met347Thr
XM_005273874.3:c.*22-2346A>G (ZDHHC24)	XP_005273931.1:n.*22-2346A>G
XR_949860.1:n.808+343A>G (ZDHHC24)
NM_001348571.1:c.*22-2346A>G (ZDHHC24)	NP_001335500.1:n.*22-2346A>G
XM_005273874.4:c.*22-2346A>G (ZDHHC24)	XP_005273931.1:n.*22-2346A>G
XR_001747823.2:n.862+343A>G (ZDHHC24)
XR_949860.3:n.933+343A>G (ZDHHC24)
NM_024649.5:c.1040T>C (BBS1) MANE Select	NP_078925.3:p.Met347Thr
NM_001348571.2:c.*22-2346A>G (ZDHHC24)	NP_001335500.1:n.*22-2346A>G