Canonical Allele Identifier: CA6123658

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs756709192
• ExAC: 11:66294084 G / C
• gnomAD v2: 11-66294084-G-C
• gnomAD v3: 11-66526613-G-C
• gnomAD v4: 11-66526613-G-C
• MyVariant Identifiers: chr11:g.66294084G>C (hg19) ; chr11:g.66526613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526613G>C , CM000673.2:g.66526613G>C	GRCh38
NC_000011.9:g.66294084G>C , CM000673.1:g.66294084G>C	GRCh37
NC_000011.8:g.66050660G>C	NCBI36
NG_009093.1:g.20966G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1181-36G>C (BBS1) MANE Select	ENSP00000317469.7:n.1181-36G>C
ENST00000318312.11:c.1181-36G>C (BBS1)	ENSP00000317469.7:n.1181-36G>C
ENST00000393994.4:c.794-36G>C (BBS1)	ENSP00000377563.2:n.794-36G>C
ENST00000419755.3:c.1292-36G>C	ENSP00000398526.3:n.1292-36G>C
ENST00000455748.6:c.890-36G>C (BBS1)	ENSP00000405764.2:n.890-36G>C
ENST00000526760.5:c.*888-36G>C (BBS1)	ENSP00000432140.1:n.*888-36G>C
ENST00000526986.5:c.*21+323C>G (ZDHHC24)	ENSP00000431321.1:n.*21+323C>G
ENST00000527959.1:n.325-36G>C (BBS1)
ENST00000529766.5:n.1188-36G>C (BBS1)
ENST00000529955.5:n.1152-36G>C (BBS1)
ENST00000534073.5:c.*21+323C>G (ZDHHC24)	ENSP00000436503.1:n.*21+323C>G
ENST00000630659.2:c.*888-36G>C (BBS1)	ENSP00000486455.1:n.*888-36G>C
NM_024649.4:c.1181-36G>C (BBS1)	NP_078925.3:n.1181-36G>C
XM_005273874.3:c.*21+323C>G (ZDHHC24)	XP_005273931.1:n.*21+323C>G
XM_011544894.1:c.*21+323C>G (ZDHHC24)	XP_011543196.1:n.*21+323C>G
XM_011544895.1:c.560-2337C>G (ZDHHC24)	XP_011543197.1:n.560-2337C>G
XR_949860.1:n.686+323C>G (ZDHHC24)
NM_001348571.1:c.*21+323C>G (ZDHHC24)	NP_001335500.1:n.*21+323C>G
XM_005273874.4:c.*21+323C>G (ZDHHC24)	XP_005273931.1:n.*21+323C>G
XM_011544894.2:c.*21+323C>G (ZDHHC24)	XP_011543196.1:n.*21+323C>G
XR_001747823.2:n.741-2337C>G (ZDHHC24)
XR_949860.3:n.811+323C>G (ZDHHC24)
NM_024649.5:c.1181-36G>C (BBS1) MANE Select	NP_078925.3:n.1181-36G>C
NM_001348571.2:c.*21+323C>G (ZDHHC24)	NP_001335500.1:n.*21+323C>G