Canonical Allele Identifier: CA1557269215

Gene: AP3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039123G= , CM000667.2:g.78039123G=	GRCh38
NC_000005.9:g.77334947G= , CM000667.1:g.77334947G=	GRCh37
NC_000005.8:g.77370703G=	NCBI36
NG_007268.1:g.260582C= , LRG_170:g.260582C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2582C=	ENSP00000430597.1:p.Thr861=
ENST00000523204.2:n.529C=
ENST00000695447.1:c.2622C=	ENSP00000511917.1:n.2622C=
ENST00000695450.1:c.1928C=	ENSP00000511919.1:p.Thr643=
ENST00000695451.1:c.*2491C=	ENSP00000511920.1:n.*2491C=
ENST00000695453.1:c.2672C=	ENSP00000511921.1:p.Thr891=
ENST00000695454.1:c.2723C=	ENSP00000511922.1:p.Thr908=
ENST00000695455.1:c.2582C=	ENSP00000511923.1:p.Thr861=
ENST00000695458.1:n.444C=
ENST00000695488.1:c.2729C=	ENSP00000511959.1:p.Thr910=
ENST00000695505.1:n.2887C=
ENST00000695506.1:n.381C=
ENST00000695507.1:c.*254C=	ENSP00000511970.1:n.*254C=
ENST00000695510.1:c.2729C=	ENSP00000511973.1:p.Thr910=
ENST00000695511.1:c.2729C=	ENSP00000511974.1:p.Thr910=
ENST00000695512.1:c.2549C=	ENSP00000511975.1:p.Thr850=
ENST00000695513.1:c.2594C=	ENSP00000511976.1:p.Thr865=
ENST00000695515.1:c.2729C=	ENSP00000511978.1:p.Thr910=
ENST00000255194.11:c.2729C= MANE Select	ENSP00000255194.7:p.Thr910=
ENST00000255194.10:c.2729C=	ENSP00000255194.6:p.Thr910=
ENST00000519295.5:c.2582C=	ENSP00000430597.1:p.Thr861=
ENST00000522901.1:c.28C=
ENST00000523204.1:n.529C=
NM_001271769.1:c.2582C=	NP_001258698.1:p.Thr861=
NM_003664.4:c.2729C= , LRG_170t1:c.2729C=	NP_003655.3:p.Thr910=
XM_005248618.2:c.2729C=	XP_005248675.1:p.Thr910=
XM_005248618.4:c.2729C=	XP_005248675.1:p.Thr910=
XM_017010001.1:c.2582C=	XP_016865490.1:p.Thr861=
NM_001271769.2:c.2582C=	NP_001258698.1:p.Thr861=
NM_003664.5:c.2729C= MANE Select	NP_003655.3:p.Thr910=