Canonical Allele Identifier: CA1557378866
Gene: AP3B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78216125C= , CM000667.2:g.78216125C= GRCh38
NC_000005.9:g.77511949C= , CM000667.1:g.77511949C= GRCh37
NC_000005.8:g.77547705C= NCBI36
NG_007268.1:g.83580G= , LRG_170:g.83580G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000517561.2:c.716G= ENSP00000511839.1:p.Trp239=
ENST00000517940.2:c.716G= ENSP00000511881.1:p.Trp239=
ENST00000519295.6:c.569G= ENSP00000430597.1:p.Trp190=
ENST00000519888.6:c.716G= ENSP00000511880.1:p.Trp239=
ENST00000695447.1:c.716G= ENSP00000511917.1:p.Trp239=
ENST00000695449.1:c.*761G= ENSP00000511918.1:n.*761G=
ENST00000695450.1:c.716G= ENSP00000511919.1:p.Trp239=
ENST00000695451.1:c.*396G= ENSP00000511920.1:n.*396G=
ENST00000695452.1:n.837G=
ENST00000695453.1:c.716G= ENSP00000511921.1:p.Trp239=
ENST00000695454.1:c.716G= ENSP00000511922.1:p.Trp239=
ENST00000695455.1:c.569G= ENSP00000511923.1:p.Trp190=
ENST00000695488.1:c.716G= ENSP00000511959.1:p.Trp239=
ENST00000695505.1:n.874G=
ENST00000695507.1:c.716G= ENSP00000511970.1:p.Trp239=
ENST00000695510.1:c.716G= ENSP00000511973.1:p.Trp239=
ENST00000695511.1:c.716G= ENSP00000511974.1:p.Trp239=
ENST00000695512.1:c.716G= ENSP00000511975.1:p.Trp239=
ENST00000695513.1:c.581G= ENSP00000511976.1:p.Trp194=
ENST00000695514.1:c.716G= ENSP00000511977.1:p.Trp239=
ENST00000695515.1:c.716G= ENSP00000511978.1:p.Trp239=
ENST00000695540.1:n.872G=
ENST00000255194.11:c.716G= MANE Select ENSP00000255194.7:p.Trp239=
ENST00000255194.10:c.716G= ENSP00000255194.6:p.Trp239=
ENST00000519295.5:c.569G= ENSP00000430597.1:p.Trp190=
NM_001271769.1:c.569G= NP_001258698.1:p.Trp190=
NM_003664.4:c.716G= , LRG_170t1:c.716G= NP_003655.3:p.Trp239=
XM_005248618.2:c.716G= XP_005248675.1:p.Trp239=
XM_005248619.3:c.716G= XP_005248676.1:p.Trp239=
XM_005248618.4:c.716G= XP_005248675.1:p.Trp239=
XM_005248619.5:c.716G= XP_005248676.1:p.Trp239=
XM_017010001.1:c.569G= XP_016865490.1:p.Trp190=
NM_001271769.2:c.569G= NP_001258698.1:p.Trp190=
NM_003664.5:c.716G= MANE Select NP_003655.3:p.Trp239=