Canonical Allele Identifier: CA445400194

Gene: AP3B1

Linked Data

• gnomAD v4: 5-78039128-G-A
• MyVariant Identifiers: chr5:g.77334952G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039128G>A , CM000667.2:g.78039128G>A	GRCh38
NC_000005.9:g.77334952G>A , CM000667.1:g.77334952G>A	GRCh37
NC_000005.8:g.77370708G>A	NCBI36
NG_007268.1:g.260577C>T , LRG_170:g.260577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2577C>T	ENSP00000430597.1:p.Asn859=
ENST00000523204.2:n.524C>T
ENST00000695447.1:c.2617C>T	ENSP00000511917.1:n.2617C>T
ENST00000695450.1:c.1923C>T	ENSP00000511919.1:p.Asn641=
ENST00000695451.1:c.*2486C>T	ENSP00000511920.1:n.*2486C>T
ENST00000695453.1:c.2667C>T	ENSP00000511921.1:p.Asn889=
ENST00000695454.1:c.2718C>T	ENSP00000511922.1:p.Asn906=
ENST00000695455.1:c.2577C>T	ENSP00000511923.1:p.Asn859=
ENST00000695458.1:n.439C>T
ENST00000695488.1:c.2724C>T	ENSP00000511959.1:p.Asn908=
ENST00000695505.1:n.2882C>T
ENST00000695506.1:n.376C>T
ENST00000695507.1:c.*249C>T	ENSP00000511970.1:n.*249C>T
ENST00000695510.1:c.2724C>T	ENSP00000511973.1:p.Asn908=
ENST00000695511.1:c.2724C>T	ENSP00000511974.1:p.Asn908=
ENST00000695512.1:c.2544C>T	ENSP00000511975.1:p.Asn848=
ENST00000695513.1:c.2589C>T	ENSP00000511976.1:p.Asn863=
ENST00000695515.1:c.2724C>T	ENSP00000511978.1:p.Asn908=
ENST00000255194.11:c.2724C>T MANE Select	ENSP00000255194.7:p.Asn908=
ENST00000255194.10:c.2724C>T	ENSP00000255194.6:p.Asn908=
ENST00000519295.5:c.2577C>T	ENSP00000430597.1:p.Asn859=
ENST00000522901.1:c.23C>T
ENST00000523204.1:n.524C>T
NM_001271769.1:c.2577C>T	NP_001258698.1:p.Asn859=
NM_003664.4:c.2724C>T , LRG_170t1:c.2724C>T	NP_003655.3:p.Asn908=
XM_005248618.2:c.2724C>T	XP_005248675.1:p.Asn908=
XM_005248618.4:c.2724C>T	XP_005248675.1:p.Asn908=
XM_017010001.1:c.2577C>T	XP_016865490.1:p.Asn859=
NM_001271769.2:c.2577C>T	NP_001258698.1:p.Asn859=
NM_003664.5:c.2724C>T MANE Select	NP_003655.3:p.Asn908=