Canonical Allele Identifier: CA3316679

Gene: AP3B1

Linked Data

• dbSNP Id: rs777107402
• ExAC: 5:77334870 T / C
• gnomAD v2: 5-77334870-T-C
• gnomAD v3: 5-78039046-T-C
• gnomAD v4: 5-78039046-T-C
• MyVariant Identifiers: chr5:g.77334870T>C (hg19) ; chr5:g.78039046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039046T>C , CM000667.2:g.78039046T>C	GRCh38
NC_000005.9:g.77334870T>C , CM000667.1:g.77334870T>C	GRCh37
NC_000005.8:g.77370626T>C	NCBI36
NG_007268.1:g.260659A>G , LRG_170:g.260659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2659A>G	ENSP00000430597.1:p.Ile887Val
ENST00000523204.2:n.606A>G
ENST00000695447.1:c.2699A>G	ENSP00000511917.1:n.2699A>G
ENST00000695450.1:c.2005A>G	ENSP00000511919.1:p.Ile669Val
ENST00000695451.1:c.*2568A>G	ENSP00000511920.1:n.*2568A>G
ENST00000695453.1:c.2749A>G	ENSP00000511921.1:p.Ile917Val
ENST00000695454.1:c.2800A>G	ENSP00000511922.1:p.Ile934Val
ENST00000695455.1:c.2659A>G	ENSP00000511923.1:p.Ile887Val
ENST00000695458.1:n.521A>G
ENST00000695488.1:c.2806A>G	ENSP00000511959.1:p.Ile936Val
ENST00000695505.1:n.2964A>G
ENST00000695506.1:n.458A>G
ENST00000695507.1:c.*331A>G	ENSP00000511970.1:n.*331A>G
ENST00000695510.1:c.2806A>G	ENSP00000511973.1:p.Ile936Val
ENST00000695511.1:c.2806A>G	ENSP00000511974.1:p.Ile936Val
ENST00000695512.1:c.2626A>G	ENSP00000511975.1:p.Ile876Val
ENST00000695513.1:c.2671A>G	ENSP00000511976.1:p.Ile891Val
ENST00000695515.1:c.2806A>G	ENSP00000511978.1:p.Ile936Val
ENST00000255194.11:c.2806A>G MANE Select	ENSP00000255194.7:p.Ile936Val
ENST00000255194.10:c.2806A>G	ENSP00000255194.6:p.Ile936Val
ENST00000519295.5:c.2659A>G	ENSP00000430597.1:p.Ile887Val
ENST00000522901.1:c.105A>G
ENST00000523204.1:n.606A>G
NM_001271769.1:c.2659A>G	NP_001258698.1:p.Ile887Val
NM_003664.4:c.2806A>G , LRG_170t1:c.2806A>G	NP_003655.3:p.Ile936Val
XM_005248618.2:c.2806A>G	XP_005248675.1:p.Ile936Val
XM_005248618.4:c.2806A>G	XP_005248675.1:p.Ile936Val
XM_017010001.1:c.2659A>G	XP_016865490.1:p.Ile887Val
NM_001271769.2:c.2659A>G	NP_001258698.1:p.Ile887Val
NM_003664.5:c.2806A>G MANE Select	NP_003655.3:p.Ile936Val