Canonical Allele Identifier: CA381424022

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66529903-T-C
• MyVariant Identifiers: chr11:g.66297374T>C (hg19) ; chr11:g.66529903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529903T>C , CM000673.2:g.66529903T>C	GRCh38
NC_000011.9:g.66297374T>C , CM000673.1:g.66297374T>C	GRCh37
NC_000011.8:g.66053950T>C	NCBI36
NG_009093.1:g.24256T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1424T>C (BBS1) MANE Select	ENSP00000317469.7:p.Leu475Pro
ENST00000318312.11:c.1424T>C (BBS1)	ENSP00000317469.7:p.Leu475Pro
ENST00000393994.4:c.1037T>C (BBS1)	ENSP00000377563.2:p.Leu346Pro
ENST00000419755.3:c.1535T>C	ENSP00000398526.3:p.Leu512Pro
ENST00000455748.6:c.1133T>C (BBS1)	ENSP00000405764.2:p.Leu378Pro
ENST00000526760.5:c.*1131T>C (BBS1)	ENSP00000432140.1:n.*1131T>C
ENST00000526986.5:c.560-415A>G (ZDHHC24)	ENSP00000431321.1:n.560-415A>G
ENST00000529955.5:n.1395T>C (BBS1)
ENST00000534073.5:c.560-2897A>G (ZDHHC24)	ENSP00000436503.1:n.560-2897A>G
ENST00000630659.2:c.*1131T>C (BBS1)	ENSP00000486455.1:n.*1131T>C
NM_024649.4:c.1424T>C (BBS1)	NP_078925.3:p.Leu475Pro
XM_005273874.3:c.560-2897A>G (ZDHHC24)	XP_005273931.1:n.560-2897A>G
XM_011544891.1:c.560-415A>G (ZDHHC24)	XP_011543193.1:n.560-415A>G
XM_011544894.1:c.560-2897A>G (ZDHHC24)	XP_011543196.1:n.560-2897A>G
XM_011544895.1:c.560-5627A>G (ZDHHC24)	XP_011543197.1:n.560-5627A>G
XR_949860.1:n.616-2897A>G (ZDHHC24)
NM_001348571.1:c.560-415A>G (ZDHHC24)	NP_001335500.1:n.560-415A>G
XM_005273874.4:c.560-2897A>G (ZDHHC24)	XP_005273931.1:n.560-2897A>G
XM_011544894.2:c.560-2897A>G (ZDHHC24)	XP_011543196.1:n.560-2897A>G
XR_001747823.2:n.741-5627A>G (ZDHHC24)
XR_949860.3:n.741-2897A>G (ZDHHC24)
NM_024649.5:c.1424T>C (BBS1) MANE Select	NP_078925.3:p.Leu475Pro
NM_001348571.2:c.560-415A>G (ZDHHC24)	NP_001335500.1:n.560-415A>G