Canonical Allele Identifier: CA445400114

Gene: AP3B1

Linked Data

• dbSNP Id: rs1239275480
• gnomAD v4: 5-78039056-A-G
• MyVariant Identifiers: chr5:g.77334880A>G (hg19) ; chr5:g.78039056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039056A>G , CM000667.2:g.78039056A>G	GRCh38
NC_000005.9:g.77334880A>G , CM000667.1:g.77334880A>G	GRCh37
NC_000005.8:g.77370636A>G	NCBI36
NG_007268.1:g.260649T>C , LRG_170:g.260649T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000519295.6:c.2649T>C	ENSP00000430597.1:p.Val883=
ENST00000523204.2:n.596T>C
ENST00000695447.1:c.2689T>C	ENSP00000511917.1:n.2689T>C
ENST00000695450.1:c.1995T>C	ENSP00000511919.1:p.Val665=
ENST00000695451.1:c.*2558T>C	ENSP00000511920.1:n.*2558T>C
ENST00000695453.1:c.2739T>C	ENSP00000511921.1:p.Val913=
ENST00000695454.1:c.2790T>C	ENSP00000511922.1:p.Val930=
ENST00000695455.1:c.2649T>C	ENSP00000511923.1:p.Val883=
ENST00000695458.1:n.511T>C
ENST00000695488.1:c.2796T>C	ENSP00000511959.1:p.Val932=
ENST00000695505.1:n.2954T>C
ENST00000695506.1:n.448T>C
ENST00000695507.1:c.*321T>C	ENSP00000511970.1:n.*321T>C
ENST00000695510.1:c.2796T>C	ENSP00000511973.1:p.Val932=
ENST00000695511.1:c.2796T>C	ENSP00000511974.1:p.Val932=
ENST00000695512.1:c.2616T>C	ENSP00000511975.1:p.Val872=
ENST00000695513.1:c.2661T>C	ENSP00000511976.1:p.Val887=
ENST00000695515.1:c.2796T>C	ENSP00000511978.1:p.Val932=
ENST00000255194.11:c.2796T>C MANE Select	ENSP00000255194.7:p.Val932=
ENST00000255194.10:c.2796T>C	ENSP00000255194.6:p.Val932=
ENST00000519295.5:c.2649T>C	ENSP00000430597.1:p.Val883=
ENST00000522901.1:c.95T>C
ENST00000523204.1:n.596T>C
NM_001271769.1:c.2649T>C	NP_001258698.1:p.Val883=
NM_003664.4:c.2796T>C , LRG_170t1:c.2796T>C	NP_003655.3:p.Val932=
XM_005248618.2:c.2796T>C	XP_005248675.1:p.Val932=
XM_005248618.4:c.2796T>C	XP_005248675.1:p.Val932=
XM_017010001.1:c.2649T>C	XP_016865490.1:p.Val883=
NM_001271769.2:c.2649T>C	NP_001258698.1:p.Val883=
NM_003664.5:c.2796T>C MANE Select	NP_003655.3:p.Val932=