Canonical Allele Identifier: CA381462175

Gene: BBS1 ZDHHC24

Linked Data

• MyVariant Identifiers: chr11:g.66291235T>C (hg19) ; chr11:g.66523764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523764T>C , CM000673.2:g.66523764T>C	GRCh38
NC_000011.9:g.66291235T>C , CM000673.1:g.66291235T>C	GRCh37
NC_000011.8:g.66047811T>C	NCBI36
NG_009093.1:g.18117T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.992T>C (BBS1) MANE Select	ENSP00000317469.7:p.Leu331Pro
ENST00000318312.11:c.992T>C (BBS1)	ENSP00000317469.7:p.Leu331Pro
ENST00000393994.4:c.724-2359T>C (BBS1)	ENSP00000377563.2:n.724-2359T>C
ENST00000419755.3:c.1103T>C	ENSP00000398526.3:p.Leu368Pro
ENST00000455748.6:c.701T>C (BBS1)	ENSP00000405764.2:p.Leu234Pro
ENST00000526760.5:c.*699T>C (BBS1)	ENSP00000432140.1:n.*699T>C
ENST00000526986.5:c.*22-2298A>G (ZDHHC24)	ENSP00000431321.1:n.*22-2298A>G
ENST00000527959.1:n.136T>C (BBS1)
ENST00000529766.5:n.999T>C (BBS1)
ENST00000529895.1:n.441T>C (BBS1)
ENST00000529955.5:n.963T>C (BBS1)
ENST00000532908.5:c.*652T>C (BBS1)	ENSP00000431866.1:n.*652T>C
ENST00000534073.5:c.*143+391A>G (ZDHHC24)	ENSP00000436503.1:n.*143+391A>G
ENST00000630659.2:c.*699T>C (BBS1)	ENSP00000486455.1:n.*699T>C
NM_024649.4:c.992T>C (BBS1)	NP_078925.3:p.Leu331Pro
XM_005273874.3:c.*22-2298A>G (ZDHHC24)	XP_005273931.1:n.*22-2298A>G
XR_949860.1:n.808+391A>G (ZDHHC24)
NM_001348571.1:c.*22-2298A>G (ZDHHC24)	NP_001335500.1:n.*22-2298A>G
XM_005273874.4:c.*22-2298A>G (ZDHHC24)	XP_005273931.1:n.*22-2298A>G
XR_001747823.2:n.862+391A>G (ZDHHC24)
XR_949860.3:n.933+391A>G (ZDHHC24)
NM_024649.5:c.992T>C (BBS1) MANE Select	NP_078925.3:p.Leu331Pro
NM_001348571.2:c.*22-2298A>G (ZDHHC24)	NP_001335500.1:n.*22-2298A>G