Canonical Allele Identifier: CA360331999

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334941C>A (hg19) ; chr5:g.78039117C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039117C>A , CM000667.2:g.78039117C>A	GRCh38
NC_000005.9:g.77334941C>A , CM000667.1:g.77334941C>A	GRCh37
NC_000005.8:g.77370697C>A	NCBI36
NG_007268.1:g.260588G>T , LRG_170:g.260588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2588G>T	ENSP00000430597.1:p.Arg863Leu
ENST00000523204.2:n.535G>T
ENST00000695447.1:c.2628G>T	ENSP00000511917.1:n.2628G>T
ENST00000695450.1:c.1934G>T	ENSP00000511919.1:p.Arg645Leu
ENST00000695451.1:c.*2497G>T	ENSP00000511920.1:n.*2497G>T
ENST00000695453.1:c.2678G>T	ENSP00000511921.1:p.Arg893Leu
ENST00000695454.1:c.2729G>T	ENSP00000511922.1:p.Arg910Leu
ENST00000695455.1:c.2588G>T	ENSP00000511923.1:p.Arg863Leu
ENST00000695458.1:n.450G>T
ENST00000695488.1:c.2735G>T	ENSP00000511959.1:p.Arg912Leu
ENST00000695505.1:n.2893G>T
ENST00000695506.1:n.387G>T
ENST00000695507.1:c.*260G>T	ENSP00000511970.1:n.*260G>T
ENST00000695510.1:c.2735G>T	ENSP00000511973.1:p.Arg912Leu
ENST00000695511.1:c.2735G>T	ENSP00000511974.1:p.Arg912Leu
ENST00000695512.1:c.2555G>T	ENSP00000511975.1:p.Arg852Leu
ENST00000695513.1:c.2600G>T	ENSP00000511976.1:p.Arg867Leu
ENST00000695515.1:c.2735G>T	ENSP00000511978.1:p.Arg912Leu
ENST00000255194.11:c.2735G>T MANE Select	ENSP00000255194.7:p.Arg912Leu
ENST00000255194.10:c.2735G>T	ENSP00000255194.6:p.Arg912Leu
ENST00000519295.5:c.2588G>T	ENSP00000430597.1:p.Arg863Leu
ENST00000522901.1:c.34G>T
ENST00000523204.1:n.535G>T
NM_001271769.1:c.2588G>T	NP_001258698.1:p.Arg863Leu
NM_003664.4:c.2735G>T , LRG_170t1:c.2735G>T	NP_003655.3:p.Arg912Leu
XM_005248618.2:c.2735G>T	XP_005248675.1:p.Arg912Leu
XM_005248618.4:c.2735G>T	XP_005248675.1:p.Arg912Leu
XM_017010001.1:c.2588G>T	XP_016865490.1:p.Arg863Leu
NM_001271769.2:c.2588G>T	NP_001258698.1:p.Arg863Leu
NM_003664.5:c.2735G>T MANE Select	NP_003655.3:p.Arg912Leu