Canonical Allele Identifier: CA2578344242

Gene: AP3B1

Linked Data

• gnomAD v4: 5-78038965-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78038965G>C , CM000667.2:g.78038965G>C	GRCh38
NC_000005.9:g.77334789G>C , CM000667.1:g.77334789G>C	GRCh37
NC_000005.8:g.77370545G>C	NCBI36
NG_007268.1:g.260740C>G , LRG_170:g.260740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2662+78C>G	ENSP00000430597.1:n.2662+78C>G
ENST00000523204.2:n.609+78C>G
ENST00000695447.1:c.2702+78C>G	ENSP00000511917.1:n.2702+78C>G
ENST00000695450.1:c.2008+78C>G	ENSP00000511919.1:n.2008+78C>G
ENST00000695451.1:c.*2571+78C>G	ENSP00000511920.1:n.*2571+78C>G
ENST00000695453.1:c.2752+78C>G	ENSP00000511921.1:n.2752+78C>G
ENST00000695454.1:c.2803+78C>G	ENSP00000511922.1:n.2803+78C>G
ENST00000695455.1:c.2662+78C>G	ENSP00000511923.1:n.2662+78C>G
ENST00000695458.1:n.524+78C>G
ENST00000695488.1:c.2809+78C>G	ENSP00000511959.1:n.2809+78C>G
ENST00000695505.1:n.2967+78C>G
ENST00000695506.1:n.461+78C>G
ENST00000695507.1:c.*334+78C>G	ENSP00000511970.1:n.*334+78C>G
ENST00000695510.1:c.2809+78C>G	ENSP00000511973.1:n.2809+78C>G
ENST00000695511.1:c.2809+78C>G	ENSP00000511974.1:n.2809+78C>G
ENST00000695512.1:c.2629+78C>G	ENSP00000511975.1:n.2629+78C>G
ENST00000695513.1:c.2674+78C>G	ENSP00000511976.1:n.2674+78C>G
ENST00000695515.1:c.2809+78C>G	ENSP00000511978.1:n.2809+78C>G
ENST00000255194.11:c.2809+78C>G MANE Select	ENSP00000255194.7:n.2809+78C>G
ENST00000255194.10:c.2809+78C>G	ENSP00000255194.6:n.2809+78C>G
ENST00000519295.5:c.2662+78C>G	ENSP00000430597.1:n.2662+78C>G
ENST00000522901.1:c.108+78C>G
ENST00000523204.1:n.609+78C>G
NM_001271769.1:c.2662+78C>G	NP_001258698.1:n.2662+78C>G
NM_003664.4:c.2809+78C>G , LRG_170t1:c.2809+78C>G	NP_003655.3:n.2809+78C>G
XM_005248618.2:c.2809+78C>G	XP_005248675.1:n.2809+78C>G
XM_005248618.4:c.2809+78C>G	XP_005248675.1:n.2809+78C>G
XM_017010001.1:c.2662+78C>G	XP_016865490.1:n.2662+78C>G
NM_001271769.2:c.2662+78C>G	NP_001258698.1:n.2662+78C>G
NM_003664.5:c.2809+78C>G MANE Select	NP_003655.3:n.2809+78C>G