Canonical Allele Identifier: CA340569
Gene: AP3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6378
ClinVar RCV Id: RCV000006750
dbSNP Id: rs121908907

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78116228C>A , CM000667.2:g.78116228C>A GRCh38
NC_000005.9:g.77412052C>A , CM000667.1:g.77412052C>A GRCh37
NC_000005.8:g.77447808C>A NCBI36
NG_007268.1:g.183477G>T , LRG_170:g.183477G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000517561.2:c.*151G>T ENSP00000511839.1:n.*151G>T
ENST00000517940.2:c.1975G>T ENSP00000511881.1:p.Glu659Ter
ENST00000519295.6:c.1828G>T ENSP00000430597.1:p.Glu610Ter
ENST00000519888.6:c.1975G>T ENSP00000511880.1:p.Glu659Ter
ENST00000695447.1:c.1975G>T ENSP00000511917.1:p.Glu659Ter
ENST00000695450.1:c.1174G>T ENSP00000511919.1:p.Glu392Ter
ENST00000695451.1:c.*1737G>T ENSP00000511920.1:n.*1737G>T
ENST00000695453.1:c.1918G>T ENSP00000511921.1:p.Glu640Ter
ENST00000695454.1:c.1969G>T ENSP00000511922.1:p.Glu657Ter
ENST00000695455.1:c.1828G>T ENSP00000511923.1:p.Glu610Ter
ENST00000695488.1:c.1975G>T ENSP00000511959.1:p.Glu659Ter
ENST00000695505.1:n.2133G>T
ENST00000695507.1:c.1975G>T ENSP00000511970.1:p.Glu659Ter
ENST00000695510.1:c.1975G>T ENSP00000511973.1:p.Glu659Ter
ENST00000695511.1:c.1975G>T ENSP00000511974.1:p.Glu659Ter
ENST00000695512.1:c.1975G>T ENSP00000511975.1:p.Glu659Ter
ENST00000695513.1:c.1840G>T ENSP00000511976.1:p.Glu614Ter
ENST00000695514.1:c.1975G>T ENSP00000511977.1:p.Glu659Ter
ENST00000695515.1:c.1975G>T ENSP00000511978.1:p.Glu659Ter
ENST00000255194.11:c.1975G>T MANE Select ENSP00000255194.7:p.Glu659Ter
ENST00000255194.10:c.1975G>T ENSP00000255194.6:p.Glu659Ter
ENST00000519295.5:c.1828G>T ENSP00000430597.1:p.Glu610Ter
NM_001271769.1:c.1828G>T NP_001258698.1:p.Glu610Ter
NM_003664.4:c.1975G>T , LRG_170t1:c.1975G>T NP_003655.3:p.Glu659Ter
XM_005248618.2:c.1975G>T XP_005248675.1:p.Glu659Ter
XM_005248619.3:c.1975G>T XP_005248676.1:p.Glu659Ter
XM_005248618.4:c.1975G>T XP_005248675.1:p.Glu659Ter
XM_005248619.5:c.1975G>T XP_005248676.1:p.Glu659Ter
XM_017010001.1:c.1828G>T XP_016865490.1:p.Glu610Ter
NM_001271769.2:c.1828G>T NP_001258698.1:p.Glu610Ter
NM_003664.5:c.1975G>T MANE Select NP_003655.3:p.Glu659Ter