Canonical Allele Identifier: CA360188026

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 568722
• ClinVar RCV Id: RCV000689171
• dbSNP Id: rs1229904606
• gnomAD v2: 5-77425064-C-T
• gnomAD v4: 5-78129240-C-T
• MyVariant Identifiers: chr5:g.77425064C>T (hg19) ; chr5:g.78129240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78129240C>T , CM000667.2:g.78129240C>T	GRCh38
NC_000005.9:g.77425064C>T , CM000667.1:g.77425064C>T	GRCh37
NC_000005.8:g.77460820C>T	NCBI36
NG_007268.1:g.170465G>A , LRG_170:g.170465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517561.2:c.1718G>A	ENSP00000511839.1:p.Arg573His
ENST00000517940.2:c.1718G>A	ENSP00000511881.1:p.Arg573His
ENST00000519295.6:c.1571G>A	ENSP00000430597.1:p.Arg524His
ENST00000519888.6:c.1718G>A	ENSP00000511880.1:p.Arg573His
ENST00000695447.1:c.1718G>A	ENSP00000511917.1:p.Arg573His
ENST00000695450.1:c.1168-13006G>A	ENSP00000511919.1:n.1168-13006G>A
ENST00000695451.1:c.*1484G>A	ENSP00000511920.1:n.*1484G>A
ENST00000695453.1:c.1661G>A	ENSP00000511921.1:p.Arg554His
ENST00000695454.1:c.1712G>A	ENSP00000511922.1:p.Arg571His
ENST00000695455.1:c.1571G>A	ENSP00000511923.1:p.Arg524His
ENST00000695488.1:c.1718G>A	ENSP00000511959.1:p.Arg573His
ENST00000695505.1:n.1876G>A
ENST00000695507.1:c.1718G>A	ENSP00000511970.1:p.Arg573His
ENST00000695510.1:c.1718G>A	ENSP00000511973.1:p.Arg573His
ENST00000695511.1:c.1718G>A	ENSP00000511974.1:p.Arg573His
ENST00000695512.1:c.1718G>A	ENSP00000511975.1:p.Arg573His
ENST00000695513.1:c.1583G>A	ENSP00000511976.1:p.Arg528His
ENST00000695514.1:c.1718G>A	ENSP00000511977.1:p.Arg573His
ENST00000695515.1:c.1718G>A	ENSP00000511978.1:p.Arg573His
ENST00000255194.11:c.1718G>A MANE Select	ENSP00000255194.7:p.Arg573His
ENST00000255194.10:c.1718G>A	ENSP00000255194.6:p.Arg573His
ENST00000517561.1:n.96G>A
ENST00000519295.5:c.1571G>A	ENSP00000430597.1:p.Arg524His
NM_001271769.1:c.1571G>A	NP_001258698.1:p.Arg524His
NM_003664.4:c.1718G>A , LRG_170t1:c.1718G>A	NP_003655.3:p.Arg573His
XM_005248618.2:c.1718G>A	XP_005248675.1:p.Arg573His
XM_005248619.3:c.1718G>A	XP_005248676.1:p.Arg573His
XM_005248618.4:c.1718G>A	XP_005248675.1:p.Arg573His
XM_005248619.5:c.1718G>A	XP_005248676.1:p.Arg573His
XM_017010001.1:c.1571G>A	XP_016865490.1:p.Arg524His
NM_001271769.2:c.1571G>A	NP_001258698.1:p.Arg524His
NM_003664.5:c.1718G>A MANE Select	NP_003655.3:p.Arg573His