Canonical Allele Identifier: CA381461440

Gene: BBS1 ZDHHC24

Linked Data

• MyVariant Identifiers: chr11:g.66290962G>T (hg19) ; chr11:g.66523491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523491G>T , CM000673.2:g.66523491G>T	GRCh38
NC_000011.9:g.66290962G>T , CM000673.1:g.66290962G>T	GRCh37
NC_000011.8:g.66047538G>T	NCBI36
NG_009093.1:g.17844G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.866G>T (BBS1) MANE Select	ENSP00000317469.7:p.Ser289Ile
ENST00000318312.11:c.866G>T (BBS1)	ENSP00000317469.7:p.Ser289Ile
ENST00000393994.4:c.724-2632G>T (BBS1)	ENSP00000377563.2:n.724-2632G>T
ENST00000419755.3:c.977G>T	ENSP00000398526.3:p.Ser326Ile
ENST00000455748.6:c.575G>T (BBS1)	ENSP00000405764.2:p.Ser192Ile
ENST00000524458.5:c.*655G>T (BBS1)	ENSP00000436195.1:n.*655G>T
ENST00000524884.1:n.551G>T (BBS1)
ENST00000526760.5:c.*573G>T (BBS1)	ENSP00000432140.1:n.*573G>T
ENST00000526986.5:c.*22-2025C>A (ZDHHC24)	ENSP00000431321.1:n.*22-2025C>A
ENST00000527959.1:n.10G>T (BBS1)
ENST00000529766.5:n.873G>T (BBS1)
ENST00000529895.1:n.315G>T (BBS1)
ENST00000529955.5:n.837G>T (BBS1)
ENST00000532908.5:c.*526G>T (BBS1)	ENSP00000431866.1:n.*526G>T
ENST00000533557.5:c.*720G>T (BBS1)	ENSP00000434619.1:n.*720G>T
ENST00000533644.5:c.*324G>T (BBS1)	ENSP00000436073.1:n.*324G>T
ENST00000534073.5:c.*143+664C>A (ZDHHC24)	ENSP00000436503.1:n.*143+664C>A
ENST00000630659.2:c.*573G>T (BBS1)	ENSP00000486455.1:n.*573G>T
NM_024649.4:c.866G>T (BBS1)	NP_078925.3:p.Ser289Ile
XM_005273874.3:c.*22-2025C>A (ZDHHC24)	XP_005273931.1:n.*22-2025C>A
XR_949860.1:n.808+664C>A (ZDHHC24)
NM_001348571.1:c.*22-2025C>A (ZDHHC24)	NP_001335500.1:n.*22-2025C>A
XM_005273874.4:c.*22-2025C>A (ZDHHC24)	XP_005273931.1:n.*22-2025C>A
XR_001747823.2:n.862+664C>A (ZDHHC24)
XR_949860.3:n.933+664C>A (ZDHHC24)
NM_024649.5:c.866G>T (BBS1) MANE Select	NP_078925.3:p.Ser289Ile
NM_001348571.2:c.*22-2025C>A (ZDHHC24)	NP_001335500.1:n.*22-2025C>A