Canonical Allele Identifier: CA1557269251

Gene: AP3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039150G= , CM000667.2:g.78039150G=	GRCh38
NC_000005.9:g.77334974G= , CM000667.1:g.77334974G=	GRCh37
NC_000005.8:g.77370730G=	NCBI36
NG_007268.1:g.260555C= , LRG_170:g.260555C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003664.5:c.2702C= MANE Select	NP_003655.3:p.Ser901=
ENST00000255194.11:c.2702C= MANE Select	ENSP00000255194.7:p.Ser901=
NM_001271769.1:c.2555C=	NP_001258698.1:p.Ser852=
NM_001271769.2:c.2555C=	NP_001258698.1:p.Ser852=
NM_003664.4:c.2702C= , LRG_170t1:c.2702C=	NP_003655.3:p.Ser901=
ENST00000255194.10:c.2702C=	ENSP00000255194.6:p.Ser901=
ENST00000519295.5:c.2555C=	ENSP00000430597.1:p.Ser852=
ENST00000519295.6:c.2555C=	ENSP00000430597.1:p.Ser852=
ENST00000522901.1:c.1C=
ENST00000523204.1:n.502C=
ENST00000523204.2:n.502C=
ENST00000695447.1:c.2595C=	ENSP00000511917.1:n.2595C=
ENST00000695450.1:c.1901C=	ENSP00000511919.1:p.Ser634=
ENST00000695451.1:c.*2464C=	ENSP00000511920.1:n.*2464C=
ENST00000695453.1:c.2645C=	ENSP00000511921.1:p.Ser882=
ENST00000695454.1:c.2696C=	ENSP00000511922.1:p.Ser899=
ENST00000695455.1:c.2555C=	ENSP00000511923.1:p.Ser852=
ENST00000695458.1:n.417C=
ENST00000695488.1:c.2702C=	ENSP00000511959.1:p.Ser901=
ENST00000695505.1:n.2860C=
ENST00000695506.1:n.354C=
ENST00000695507.1:c.*227C=	ENSP00000511970.1:n.*227C=
ENST00000695510.1:c.2702C=	ENSP00000511973.1:p.Ser901=
ENST00000695511.1:c.2702C=	ENSP00000511974.1:p.Ser901=
ENST00000695512.1:c.2522C=	ENSP00000511975.1:p.Ser841=
ENST00000695513.1:c.2567C=	ENSP00000511976.1:p.Ser856=
ENST00000695515.1:c.2702C=	ENSP00000511978.1:p.Ser901=
XM_005248618.2:c.2702C=	XP_005248675.1:p.Ser901=
XM_005248618.4:c.2702C=	XP_005248675.1:p.Ser901=
XM_017010001.1:c.2555C=	XP_016865490.1:p.Ser852=