Canonical Allele Identifier: CA3316976

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 2326362
• ClinVar RCV Id: RCV002920941
• dbSNP Id: rs767432388
• ExAC: 5:77425046 T / C
• gnomAD v2: 5-77425046-T-C
• gnomAD v4: 5-78129222-T-C
• MyVariant Identifiers: chr5:g.77425046T>C (hg19) ; chr5:g.78129222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78129222T>C , CM000667.2:g.78129222T>C	GRCh38
NC_000005.9:g.77425046T>C , CM000667.1:g.77425046T>C	GRCh37
NC_000005.8:g.77460802T>C	NCBI36
NG_007268.1:g.170483A>G , LRG_170:g.170483A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000517561.2:c.1736A>G	ENSP00000511839.1:p.Gln579Arg
ENST00000517940.2:c.1736A>G	ENSP00000511881.1:p.Gln579Arg
ENST00000519295.6:c.1589A>G	ENSP00000430597.1:p.Gln530Arg
ENST00000519888.6:c.1736A>G	ENSP00000511880.1:p.Gln579Arg
ENST00000695447.1:c.1736A>G	ENSP00000511917.1:p.Gln579Arg
ENST00000695450.1:c.1168-12988A>G	ENSP00000511919.1:n.1168-12988A>G
ENST00000695451.1:c.*1502A>G	ENSP00000511920.1:n.*1502A>G
ENST00000695453.1:c.1679A>G	ENSP00000511921.1:p.Gln560Arg
ENST00000695454.1:c.1730A>G	ENSP00000511922.1:p.Gln577Arg
ENST00000695455.1:c.1589A>G	ENSP00000511923.1:p.Gln530Arg
ENST00000695488.1:c.1736A>G	ENSP00000511959.1:p.Gln579Arg
ENST00000695505.1:n.1894A>G
ENST00000695507.1:c.1736A>G	ENSP00000511970.1:p.Gln579Arg
ENST00000695510.1:c.1736A>G	ENSP00000511973.1:p.Gln579Arg
ENST00000695511.1:c.1736A>G	ENSP00000511974.1:p.Gln579Arg
ENST00000695512.1:c.1736A>G	ENSP00000511975.1:p.Gln579Arg
ENST00000695513.1:c.1601A>G	ENSP00000511976.1:p.Gln534Arg
ENST00000695514.1:c.1736A>G	ENSP00000511977.1:p.Gln579Arg
ENST00000695515.1:c.1736A>G	ENSP00000511978.1:p.Gln579Arg
ENST00000255194.11:c.1736A>G MANE Select	ENSP00000255194.7:p.Gln579Arg
ENST00000255194.10:c.1736A>G	ENSP00000255194.6:p.Gln579Arg
ENST00000517561.1:n.114A>G
ENST00000519295.5:c.1589A>G	ENSP00000430597.1:p.Gln530Arg
NM_001271769.1:c.1589A>G	NP_001258698.1:p.Gln530Arg
NM_003664.4:c.1736A>G , LRG_170t1:c.1736A>G	NP_003655.3:p.Gln579Arg
XM_005248618.2:c.1736A>G	XP_005248675.1:p.Gln579Arg
XM_005248619.3:c.1736A>G	XP_005248676.1:p.Gln579Arg
XM_005248618.4:c.1736A>G	XP_005248675.1:p.Gln579Arg
XM_005248619.5:c.1736A>G	XP_005248676.1:p.Gln579Arg
XM_017010001.1:c.1589A>G	XP_016865490.1:p.Gln530Arg
NM_001271769.2:c.1589A>G	NP_001258698.1:p.Gln530Arg
NM_003664.5:c.1736A>G MANE Select	NP_003655.3:p.Gln579Arg