Canonical Allele Identifier: CA360332004

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334943A>C (hg19) ; chr5:g.78039119A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039119A>C , CM000667.2:g.78039119A>C	GRCh38
NC_000005.9:g.77334943A>C , CM000667.1:g.77334943A>C	GRCh37
NC_000005.8:g.77370699A>C	NCBI36
NG_007268.1:g.260586T>G , LRG_170:g.260586T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2586T>G	ENSP00000430597.1:p.Asp862Glu
ENST00000523204.2:n.533T>G
ENST00000695447.1:c.2626T>G	ENSP00000511917.1:n.2626T>G
ENST00000695450.1:c.1932T>G	ENSP00000511919.1:p.Asp644Glu
ENST00000695451.1:c.*2495T>G	ENSP00000511920.1:n.*2495T>G
ENST00000695453.1:c.2676T>G	ENSP00000511921.1:p.Asp892Glu
ENST00000695454.1:c.2727T>G	ENSP00000511922.1:p.Asp909Glu
ENST00000695455.1:c.2586T>G	ENSP00000511923.1:p.Asp862Glu
ENST00000695458.1:n.448T>G
ENST00000695488.1:c.2733T>G	ENSP00000511959.1:p.Asp911Glu
ENST00000695505.1:n.2891T>G
ENST00000695506.1:n.385T>G
ENST00000695507.1:c.*258T>G	ENSP00000511970.1:n.*258T>G
ENST00000695510.1:c.2733T>G	ENSP00000511973.1:p.Asp911Glu
ENST00000695511.1:c.2733T>G	ENSP00000511974.1:p.Asp911Glu
ENST00000695512.1:c.2553T>G	ENSP00000511975.1:p.Asp851Glu
ENST00000695513.1:c.2598T>G	ENSP00000511976.1:p.Asp866Glu
ENST00000695515.1:c.2733T>G	ENSP00000511978.1:p.Asp911Glu
ENST00000255194.11:c.2733T>G MANE Select	ENSP00000255194.7:p.Asp911Glu
ENST00000255194.10:c.2733T>G	ENSP00000255194.6:p.Asp911Glu
ENST00000519295.5:c.2586T>G	ENSP00000430597.1:p.Asp862Glu
ENST00000522901.1:c.32T>G
ENST00000523204.1:n.533T>G
NM_001271769.1:c.2586T>G	NP_001258698.1:p.Asp862Glu
NM_003664.4:c.2733T>G , LRG_170t1:c.2733T>G	NP_003655.3:p.Asp911Glu
XM_005248618.2:c.2733T>G	XP_005248675.1:p.Asp911Glu
XM_005248618.4:c.2733T>G	XP_005248675.1:p.Asp911Glu
XM_017010001.1:c.2586T>G	XP_016865490.1:p.Asp862Glu
NM_001271769.2:c.2586T>G	NP_001258698.1:p.Asp862Glu
NM_003664.5:c.2733T>G MANE Select	NP_003655.3:p.Asp911Glu