Canonical Allele Identifier: CA1077789199

Gene: AP3B1

Linked Data

• dbSNP Id: rs1747931184
• gnomAD v3: 5-78038995-T-A
• gnomAD v4: 5-78038995-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78038995T>A , CM000667.2:g.78038995T>A	GRCh38
NC_000005.9:g.77334819T>A , CM000667.1:g.77334819T>A	GRCh37
NC_000005.8:g.77370575T>A	NCBI36
NG_007268.1:g.260710A>T , LRG_170:g.260710A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2662+48A>T	ENSP00000430597.1:n.2662+48A>T
ENST00000523204.2:n.609+48A>T
ENST00000695447.1:c.2702+48A>T	ENSP00000511917.1:n.2702+48A>T
ENST00000695450.1:c.2008+48A>T	ENSP00000511919.1:n.2008+48A>T
ENST00000695451.1:c.*2571+48A>T	ENSP00000511920.1:n.*2571+48A>T
ENST00000695453.1:c.2752+48A>T	ENSP00000511921.1:n.2752+48A>T
ENST00000695454.1:c.2803+48A>T	ENSP00000511922.1:n.2803+48A>T
ENST00000695455.1:c.2662+48A>T	ENSP00000511923.1:n.2662+48A>T
ENST00000695458.1:n.524+48A>T
ENST00000695488.1:c.2809+48A>T	ENSP00000511959.1:n.2809+48A>T
ENST00000695505.1:n.2967+48A>T
ENST00000695506.1:n.461+48A>T
ENST00000695507.1:c.*334+48A>T	ENSP00000511970.1:n.*334+48A>T
ENST00000695510.1:c.2809+48A>T	ENSP00000511973.1:n.2809+48A>T
ENST00000695511.1:c.2809+48A>T	ENSP00000511974.1:n.2809+48A>T
ENST00000695512.1:c.2629+48A>T	ENSP00000511975.1:n.2629+48A>T
ENST00000695513.1:c.2674+48A>T	ENSP00000511976.1:n.2674+48A>T
ENST00000695515.1:c.2809+48A>T	ENSP00000511978.1:n.2809+48A>T
ENST00000255194.11:c.2809+48A>T MANE Select	ENSP00000255194.7:n.2809+48A>T
ENST00000255194.10:c.2809+48A>T	ENSP00000255194.6:n.2809+48A>T
ENST00000519295.5:c.2662+48A>T	ENSP00000430597.1:n.2662+48A>T
ENST00000522901.1:c.108+48A>T
ENST00000523204.1:n.609+48A>T
NM_001271769.1:c.2662+48A>T	NP_001258698.1:n.2662+48A>T
NM_003664.4:c.2809+48A>T , LRG_170t1:c.2809+48A>T	NP_003655.3:n.2809+48A>T
XM_005248618.2:c.2809+48A>T	XP_005248675.1:n.2809+48A>T
XM_005248618.4:c.2809+48A>T	XP_005248675.1:n.2809+48A>T
XM_017010001.1:c.2662+48A>T	XP_016865490.1:n.2662+48A>T
NM_001271769.2:c.2662+48A>T	NP_001258698.1:n.2662+48A>T
NM_003664.5:c.2809+48A>T MANE Select	NP_003655.3:n.2809+48A>T