Canonical Allele Identifier: CA445400174

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334940T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039116T>A , CM000667.2:g.78039116T>A	GRCh38
NC_000005.9:g.77334940T>A , CM000667.1:g.77334940T>A	GRCh37
NC_000005.8:g.77370696T>A	NCBI36
NG_007268.1:g.260589A>T , LRG_170:g.260589A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2589A>T	ENSP00000430597.1:p.Arg863=
ENST00000523204.2:n.536A>T
ENST00000695447.1:c.2629A>T	ENSP00000511917.1:n.2629A>T
ENST00000695450.1:c.1935A>T	ENSP00000511919.1:p.Arg645=
ENST00000695451.1:c.*2498A>T	ENSP00000511920.1:n.*2498A>T
ENST00000695453.1:c.2679A>T	ENSP00000511921.1:p.Arg893=
ENST00000695454.1:c.2730A>T	ENSP00000511922.1:p.Arg910=
ENST00000695455.1:c.2589A>T	ENSP00000511923.1:p.Arg863=
ENST00000695458.1:n.451A>T
ENST00000695488.1:c.2736A>T	ENSP00000511959.1:p.Arg912=
ENST00000695505.1:n.2894A>T
ENST00000695506.1:n.388A>T
ENST00000695507.1:c.*261A>T	ENSP00000511970.1:n.*261A>T
ENST00000695510.1:c.2736A>T	ENSP00000511973.1:p.Arg912=
ENST00000695511.1:c.2736A>T	ENSP00000511974.1:p.Arg912=
ENST00000695512.1:c.2556A>T	ENSP00000511975.1:p.Arg852=
ENST00000695513.1:c.2601A>T	ENSP00000511976.1:p.Arg867=
ENST00000695515.1:c.2736A>T	ENSP00000511978.1:p.Arg912=
ENST00000255194.11:c.2736A>T MANE Select	ENSP00000255194.7:p.Arg912=
ENST00000255194.10:c.2736A>T	ENSP00000255194.6:p.Arg912=
ENST00000519295.5:c.2589A>T	ENSP00000430597.1:p.Arg863=
ENST00000522901.1:c.35A>T
ENST00000523204.1:n.536A>T
NM_001271769.1:c.2589A>T	NP_001258698.1:p.Arg863=
NM_003664.4:c.2736A>T , LRG_170t1:c.2736A>T	NP_003655.3:p.Arg912=
XM_005248618.2:c.2736A>T	XP_005248675.1:p.Arg912=
XM_005248618.4:c.2736A>T	XP_005248675.1:p.Arg912=
XM_017010001.1:c.2589A>T	XP_016865490.1:p.Arg863=
NM_001271769.2:c.2589A>T	NP_001258698.1:p.Arg863=
NM_003664.5:c.2736A>T MANE Select	NP_003655.3:p.Arg912=