Canonical Allele Identifier: CA6123507

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521377G>T , CM000673.2:g.66521377G>T	GRCh38
NC_000011.9:g.66288848G>T , CM000673.1:g.66288848G>T	GRCh37
NC_000011.8:g.66045424G>T	NCBI36
NG_009093.1:g.15730G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.830+1G>T (BBS1) MANE Select	NP_078925.3:n.830+1G>T
ENST00000318312.12:c.830+1G>T (BBS1) MANE Select	ENSP00000317469.7:n.830+1G>T
NM_001348571.1:c.*111C>A (ZDHHC24)	NP_001335500.1:n.*111C>A
NM_001348571.2:c.*111C>A (ZDHHC24)	NP_001335500.1:n.*111C>A
NM_024649.4:c.830+1G>T (BBS1)	NP_078925.3:n.830+1G>T
ENST00000318312.11:c.830+1G>T (BBS1)	ENSP00000317469.7:n.830+1G>T
ENST00000393994.4:c.723+1629G>T (BBS1)	ENSP00000377563.2:n.723+1629G>T
ENST00000419755.3:c.941+1G>T	ENSP00000398526.3:n.941+1G>T
ENST00000455748.6:c.539+1G>T (BBS1)	ENSP00000405764.2:n.539+1G>T
ENST00000524458.5:c.*619+1G>T (BBS1)	ENSP00000436195.1:n.*619+1G>T
ENST00000525809.5:c.557+1G>T (BBS1)	ENSP00000431187.1:n.557+1G>T
ENST00000526035.5:c.*533+1G>T (BBS1)	ENSP00000434197.1:n.*533+1G>T
ENST00000526760.5:c.*537+1G>T (BBS1)	ENSP00000432140.1:n.*537+1G>T
ENST00000526986.5:c.*111C>A (ZDHHC24)	ENSP00000431321.1:n.*111C>A
ENST00000529766.5:n.837+1G>T (BBS1)
ENST00000529955.5:n.801+1G>T (BBS1)
ENST00000532908.5:c.*490+1G>T (BBS1)	ENSP00000431866.1:n.*490+1G>T
ENST00000533430.5:n.609G>T (BBS1)
ENST00000533557.5:c.*490+1G>T (BBS1)	ENSP00000434619.1:n.*490+1G>T
ENST00000533644.5:c.*288+1G>T (BBS1)	ENSP00000436073.1:n.*288+1G>T
ENST00000534073.5:c.*233C>A (ZDHHC24)	ENSP00000436503.1:n.*233C>A
ENST00000630659.2:c.*537+1G>T (BBS1)	ENSP00000486455.1:n.*537+1G>T
XR_001747823.2:n.952C>A (ZDHHC24)
XR_949860.3:n.1023C>A (ZDHHC24)