Canonical Allele Identifier: CA1557269123

Gene: AP3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039078G= , CM000667.2:g.78039078G=	GRCh38
NC_000005.9:g.77334902G= , CM000667.1:g.77334902G=	GRCh37
NC_000005.8:g.77370658G=	NCBI36
NG_007268.1:g.260627C= , LRG_170:g.260627C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2627C=	ENSP00000430597.1:p.Pro876=
ENST00000523204.2:n.574C=
ENST00000695447.1:c.2667C=	ENSP00000511917.1:n.2667C=
ENST00000695450.1:c.1973C=	ENSP00000511919.1:p.Pro658=
ENST00000695451.1:c.*2536C=	ENSP00000511920.1:n.*2536C=
ENST00000695453.1:c.2717C=	ENSP00000511921.1:p.Pro906=
ENST00000695454.1:c.2768C=	ENSP00000511922.1:p.Pro923=
ENST00000695455.1:c.2627C=	ENSP00000511923.1:p.Pro876=
ENST00000695458.1:n.489C=
ENST00000695488.1:c.2774C=	ENSP00000511959.1:p.Pro925=
ENST00000695505.1:n.2932C=
ENST00000695506.1:n.426C=
ENST00000695507.1:c.*299C=	ENSP00000511970.1:n.*299C=
ENST00000695510.1:c.2774C=	ENSP00000511973.1:p.Pro925=
ENST00000695511.1:c.2774C=	ENSP00000511974.1:p.Pro925=
ENST00000695512.1:c.2594C=	ENSP00000511975.1:p.Pro865=
ENST00000695513.1:c.2639C=	ENSP00000511976.1:p.Pro880=
ENST00000695515.1:c.2774C=	ENSP00000511978.1:p.Pro925=
ENST00000255194.11:c.2774C= MANE Select	ENSP00000255194.7:p.Pro925=
ENST00000255194.10:c.2774C=	ENSP00000255194.6:p.Pro925=
ENST00000519295.5:c.2627C=	ENSP00000430597.1:p.Pro876=
ENST00000522901.1:c.73C=
ENST00000523204.1:n.574C=
NM_001271769.1:c.2627C=	NP_001258698.1:p.Pro876=
NM_003664.4:c.2774C= , LRG_170t1:c.2774C=	NP_003655.3:p.Pro925=
XM_005248618.2:c.2774C=	XP_005248675.1:p.Pro925=
XM_005248618.4:c.2774C=	XP_005248675.1:p.Pro925=
XM_017010001.1:c.2627C=	XP_016865490.1:p.Pro876=
NM_001271769.2:c.2627C=	NP_001258698.1:p.Pro876=
NM_003664.5:c.2774C= MANE Select	NP_003655.3:p.Pro925=