Canonical Allele Identifier: CA3316982

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 730085
• ClinVar RCV Id: RCV000904834 ; RCV001818778
• dbSNP Id: rs376978572
• ExAC: 5:77425078 G / A
• gnomAD v2: 5-77425078-G-A
• gnomAD v4: 5-78129254-G-A
• MyVariant Identifiers: chr5:g.77425078G>A (hg19) ; chr5:g.78129254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78129254G>A , CM000667.2:g.78129254G>A	GRCh38
NC_000005.9:g.77425078G>A , CM000667.1:g.77425078G>A	GRCh37
NC_000005.8:g.77460834G>A	NCBI36
NG_007268.1:g.170451C>T , LRG_170:g.170451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517561.2:c.1704C>T	ENSP00000511839.1:p.Tyr568=
ENST00000517940.2:c.1704C>T	ENSP00000511881.1:p.Tyr568=
ENST00000519295.6:c.1557C>T	ENSP00000430597.1:p.Tyr519=
ENST00000519888.6:c.1704C>T	ENSP00000511880.1:p.Tyr568=
ENST00000695447.1:c.1704C>T	ENSP00000511917.1:p.Tyr568=
ENST00000695450.1:c.1168-13020C>T	ENSP00000511919.1:n.1168-13020C>T
ENST00000695451.1:c.*1470C>T	ENSP00000511920.1:n.*1470C>T
ENST00000695453.1:c.1647C>T	ENSP00000511921.1:p.Tyr549=
ENST00000695454.1:c.1698C>T	ENSP00000511922.1:p.Tyr566=
ENST00000695455.1:c.1557C>T	ENSP00000511923.1:p.Tyr519=
ENST00000695488.1:c.1704C>T	ENSP00000511959.1:p.Tyr568=
ENST00000695505.1:n.1862C>T
ENST00000695507.1:c.1704C>T	ENSP00000511970.1:p.Tyr568=
ENST00000695510.1:c.1704C>T	ENSP00000511973.1:p.Tyr568=
ENST00000695511.1:c.1704C>T	ENSP00000511974.1:p.Tyr568=
ENST00000695512.1:c.1704C>T	ENSP00000511975.1:p.Tyr568=
ENST00000695513.1:c.1569C>T	ENSP00000511976.1:p.Tyr523=
ENST00000695514.1:c.1704C>T	ENSP00000511977.1:p.Tyr568=
ENST00000695515.1:c.1704C>T	ENSP00000511978.1:p.Tyr568=
ENST00000255194.11:c.1704C>T MANE Select	ENSP00000255194.7:p.Tyr568=
ENST00000255194.10:c.1704C>T	ENSP00000255194.6:p.Tyr568=
ENST00000517561.1:n.82C>T
ENST00000519295.5:c.1557C>T	ENSP00000430597.1:p.Tyr519=
NM_001271769.1:c.1557C>T	NP_001258698.1:p.Tyr519=
NM_003664.4:c.1704C>T , LRG_170t1:c.1704C>T	NP_003655.3:p.Tyr568=
XM_005248618.2:c.1704C>T	XP_005248675.1:p.Tyr568=
XM_005248619.3:c.1704C>T	XP_005248676.1:p.Tyr568=
XM_005248618.4:c.1704C>T	XP_005248675.1:p.Tyr568=
XM_005248619.5:c.1704C>T	XP_005248676.1:p.Tyr568=
XM_017010001.1:c.1557C>T	XP_016865490.1:p.Tyr519=
NM_001271769.2:c.1557C>T	NP_001258698.1:p.Tyr519=
NM_003664.5:c.1704C>T MANE Select	NP_003655.3:p.Tyr568=