Canonical Allele Identifier: CA360331978

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334932T>A (hg19) ; chr5:g.78039108T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039108T>A , CM000667.2:g.78039108T>A	GRCh38
NC_000005.9:g.77334932T>A , CM000667.1:g.77334932T>A	GRCh37
NC_000005.8:g.77370688T>A	NCBI36
NG_007268.1:g.260597A>T , LRG_170:g.260597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2597A>T	ENSP00000430597.1:p.Glu866Val
ENST00000523204.2:n.544A>T
ENST00000695447.1:c.2637A>T	ENSP00000511917.1:n.2637A>T
ENST00000695450.1:c.1943A>T	ENSP00000511919.1:p.Glu648Val
ENST00000695451.1:c.*2506A>T	ENSP00000511920.1:n.*2506A>T
ENST00000695453.1:c.2687A>T	ENSP00000511921.1:p.Glu896Val
ENST00000695454.1:c.2738A>T	ENSP00000511922.1:p.Glu913Val
ENST00000695455.1:c.2597A>T	ENSP00000511923.1:p.Glu866Val
ENST00000695458.1:n.459A>T
ENST00000695488.1:c.2744A>T	ENSP00000511959.1:p.Glu915Val
ENST00000695505.1:n.2902A>T
ENST00000695506.1:n.396A>T
ENST00000695507.1:c.*269A>T	ENSP00000511970.1:n.*269A>T
ENST00000695510.1:c.2744A>T	ENSP00000511973.1:p.Glu915Val
ENST00000695511.1:c.2744A>T	ENSP00000511974.1:p.Glu915Val
ENST00000695512.1:c.2564A>T	ENSP00000511975.1:p.Glu855Val
ENST00000695513.1:c.2609A>T	ENSP00000511976.1:p.Glu870Val
ENST00000695515.1:c.2744A>T	ENSP00000511978.1:p.Glu915Val
ENST00000255194.11:c.2744A>T MANE Select	ENSP00000255194.7:p.Glu915Val
ENST00000255194.10:c.2744A>T	ENSP00000255194.6:p.Glu915Val
ENST00000519295.5:c.2597A>T	ENSP00000430597.1:p.Glu866Val
ENST00000522901.1:c.43A>T
ENST00000523204.1:n.544A>T
NM_001271769.1:c.2597A>T	NP_001258698.1:p.Glu866Val
NM_003664.4:c.2744A>T , LRG_170t1:c.2744A>T	NP_003655.3:p.Glu915Val
XM_005248618.2:c.2744A>T	XP_005248675.1:p.Glu915Val
XM_005248618.4:c.2744A>T	XP_005248675.1:p.Glu915Val
XM_017010001.1:c.2597A>T	XP_016865490.1:p.Glu866Val
NM_001271769.2:c.2597A>T	NP_001258698.1:p.Glu866Val
NM_003664.5:c.2744A>T MANE Select	NP_003655.3:p.Glu915Val