Canonical Allele Identifier: CA3316971

Gene: AP3B1

Linked Data

• dbSNP Id: rs199766336
• ExAC: 5:77425038 C / A
• gnomAD v2: 5-77425038-C-A
• gnomAD v4: 5-78129214-C-A
• MyVariant Identifiers: chr5:g.77425038C>A (hg19) ; chr5:g.78129214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78129214C>A , CM000667.2:g.78129214C>A	GRCh38
NC_000005.9:g.77425038C>A , CM000667.1:g.77425038C>A	GRCh37
NC_000005.8:g.77460794C>A	NCBI36
NG_007268.1:g.170491G>T , LRG_170:g.170491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517561.2:c.1744G>T	ENSP00000511839.1:p.Val582Phe
ENST00000517940.2:c.1744G>T	ENSP00000511881.1:p.Val582Phe
ENST00000519295.6:c.1597G>T	ENSP00000430597.1:p.Val533Phe
ENST00000519888.6:c.1744G>T	ENSP00000511880.1:p.Val582Phe
ENST00000695447.1:c.1744G>T	ENSP00000511917.1:p.Val582Phe
ENST00000695450.1:c.1168-12980G>T	ENSP00000511919.1:n.1168-12980G>T
ENST00000695451.1:c.*1510G>T	ENSP00000511920.1:n.*1510G>T
ENST00000695453.1:c.1687G>T	ENSP00000511921.1:p.Val563Phe
ENST00000695454.1:c.1738G>T	ENSP00000511922.1:p.Val580Phe
ENST00000695455.1:c.1597G>T	ENSP00000511923.1:p.Val533Phe
ENST00000695488.1:c.1744G>T	ENSP00000511959.1:p.Val582Phe
ENST00000695505.1:n.1902G>T
ENST00000695507.1:c.1744G>T	ENSP00000511970.1:p.Val582Phe
ENST00000695510.1:c.1744G>T	ENSP00000511973.1:p.Val582Phe
ENST00000695511.1:c.1744G>T	ENSP00000511974.1:p.Val582Phe
ENST00000695512.1:c.1744G>T	ENSP00000511975.1:p.Val582Phe
ENST00000695513.1:c.1609G>T	ENSP00000511976.1:p.Val537Phe
ENST00000695514.1:c.1744G>T	ENSP00000511977.1:p.Val582Phe
ENST00000695515.1:c.1744G>T	ENSP00000511978.1:p.Val582Phe
ENST00000255194.11:c.1744G>T MANE Select	ENSP00000255194.7:p.Val582Phe
ENST00000255194.10:c.1744G>T	ENSP00000255194.6:p.Val582Phe
ENST00000517561.1:n.122G>T
ENST00000519295.5:c.1597G>T	ENSP00000430597.1:p.Val533Phe
NM_001271769.1:c.1597G>T	NP_001258698.1:p.Val533Phe
NM_003664.4:c.1744G>T , LRG_170t1:c.1744G>T	NP_003655.3:p.Val582Phe
XM_005248618.2:c.1744G>T	XP_005248675.1:p.Val582Phe
XM_005248619.3:c.1744G>T	XP_005248676.1:p.Val582Phe
XM_005248618.4:c.1744G>T	XP_005248675.1:p.Val582Phe
XM_005248619.5:c.1744G>T	XP_005248676.1:p.Val582Phe
XM_017010001.1:c.1597G>T	XP_016865490.1:p.Val533Phe
NM_001271769.2:c.1597G>T	NP_001258698.1:p.Val533Phe
NM_003664.5:c.1744G>T MANE Select	NP_003655.3:p.Val582Phe