Canonical Allele Identifier: CA3316619

Gene: AP3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78020769T>C , CM000667.2:g.78020769T>C	GRCh38
NC_000005.9:g.77316593T>C , CM000667.1:g.77316593T>C	GRCh37
NC_000005.8:g.77352349T>C	NCBI36
NG_007268.1:g.278936A>G , LRG_170:g.278936A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003664.5:c.2915A>G MANE Select	NP_003655.3:p.Asn972Ser
ENST00000255194.11:c.2915A>G MANE Select	ENSP00000255194.7:p.Asn972Ser
NM_001271769.1:c.2768A>G	NP_001258698.1:p.Asn923Ser
NM_001271769.2:c.2768A>G	NP_001258698.1:p.Asn923Ser
NM_003664.4:c.2915A>G , LRG_170t1:c.2915A>G	NP_003655.3:p.Asn972Ser
ENST00000255194.10:c.2915A>G	ENSP00000255194.6:p.Asn972Ser
ENST00000519295.5:c.2768A>G	ENSP00000430597.1:p.Asn923Ser
ENST00000519295.6:c.2768A>G	ENSP00000430597.1:p.Asn923Ser
ENST00000522901.1:c.214A>G
ENST00000523204.1:n.715A>G
ENST00000523204.2:n.715A>G
ENST00000695447.1:c.2808A>G	ENSP00000511917.1:n.2808A>G
ENST00000695450.1:c.2114A>G	ENSP00000511919.1:p.Asn705Ser
ENST00000695451.1:c.*2677A>G	ENSP00000511920.1:n.*2677A>G
ENST00000695453.1:c.2858A>G	ENSP00000511921.1:p.Asn953Ser
ENST00000695454.1:c.2909A>G	ENSP00000511922.1:p.Asn970Ser
ENST00000695455.1:c.2768A>G	ENSP00000511923.1:p.Asn923Ser
ENST00000695458.1:n.630A>G
ENST00000695488.1:c.2915A>G	ENSP00000511959.1:p.Asn972Ser
ENST00000695505.1:n.3073A>G
ENST00000695506.1:n.567A>G
ENST00000695507.1:c.*440A>G	ENSP00000511970.1:n.*440A>G
ENST00000695510.1:c.2915A>G	ENSP00000511973.1:p.Asn972Ser
ENST00000695511.1:c.2915A>G	ENSP00000511974.1:p.Asn972Ser
ENST00000695512.1:c.2735A>G	ENSP00000511975.1:p.Asn912Ser
ENST00000695513.1:c.2780A>G	ENSP00000511976.1:p.Asn927Ser
ENST00000695515.1:c.2915A>G	ENSP00000511978.1:p.Asn972Ser
XM_005248618.2:c.2915A>G	XP_005248675.1:p.Asn972Ser
XM_005248618.4:c.2915A>G	XP_005248675.1:p.Asn972Ser
XM_017010001.1:c.2768A>G	XP_016865490.1:p.Asn923Ser