Canonical Allele Identifier: CA381462156

Gene: BBS1 ZDHHC24

Linked Data

• MyVariant Identifiers: chr11:g.66291229C>G (hg19) ; chr11:g.66523758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523758C>G , CM000673.2:g.66523758C>G	GRCh38
NC_000011.9:g.66291229C>G , CM000673.1:g.66291229C>G	GRCh37
NC_000011.8:g.66047805C>G	NCBI36
NG_009093.1:g.18111C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.986C>G (BBS1) MANE Select	ENSP00000317469.7:p.Ala329Gly
ENST00000318312.11:c.986C>G (BBS1)	ENSP00000317469.7:p.Ala329Gly
ENST00000393994.4:c.724-2365C>G (BBS1)	ENSP00000377563.2:n.724-2365C>G
ENST00000419755.3:c.1097C>G	ENSP00000398526.3:p.Ala366Gly
ENST00000455748.6:c.695C>G (BBS1)	ENSP00000405764.2:p.Ala232Gly
ENST00000526760.5:c.*693C>G (BBS1)	ENSP00000432140.1:n.*693C>G
ENST00000526986.5:c.*22-2292G>C (ZDHHC24)	ENSP00000431321.1:n.*22-2292G>C
ENST00000527959.1:n.130C>G (BBS1)
ENST00000529766.5:n.993C>G (BBS1)
ENST00000529895.1:n.435C>G (BBS1)
ENST00000529955.5:n.957C>G (BBS1)
ENST00000532908.5:c.*646C>G (BBS1)	ENSP00000431866.1:n.*646C>G
ENST00000534073.5:c.*143+397G>C (ZDHHC24)	ENSP00000436503.1:n.*143+397G>C
ENST00000630659.2:c.*693C>G (BBS1)	ENSP00000486455.1:n.*693C>G
NM_024649.4:c.986C>G (BBS1)	NP_078925.3:p.Ala329Gly
XM_005273874.3:c.*22-2292G>C (ZDHHC24)	XP_005273931.1:n.*22-2292G>C
XR_949860.1:n.808+397G>C (ZDHHC24)
NM_001348571.1:c.*22-2292G>C (ZDHHC24)	NP_001335500.1:n.*22-2292G>C
XM_005273874.4:c.*22-2292G>C (ZDHHC24)	XP_005273931.1:n.*22-2292G>C
XR_001747823.2:n.862+397G>C (ZDHHC24)
XR_949860.3:n.933+397G>C (ZDHHC24)
NM_024649.5:c.986C>G (BBS1) MANE Select	NP_078925.3:p.Ala329Gly
NM_001348571.2:c.*22-2292G>C (ZDHHC24)	NP_001335500.1:n.*22-2292G>C