Canonical Allele Identifier: CA3316674

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 1569026
• ClinVar RCV Id: RCV002218791
• dbSNP Id: rs754832294
• ExAC: 5:77334853 G / T
• gnomAD v2: 5-77334853-G-T
• gnomAD v3: 5-78039029-G-T
• gnomAD v4: 5-78039029-G-T
• MyVariant Identifiers: chr5:g.77334853G>T (hg19) ; chr5:g.78039029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039029G>T , CM000667.2:g.78039029G>T	GRCh38
NC_000005.9:g.77334853G>T , CM000667.1:g.77334853G>T	GRCh37
NC_000005.8:g.77370609G>T	NCBI36
NG_007268.1:g.260676C>A , LRG_170:g.260676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2662+14C>A	ENSP00000430597.1:n.2662+14C>A
ENST00000523204.2:n.609+14C>A
ENST00000695447.1:c.2702+14C>A	ENSP00000511917.1:n.2702+14C>A
ENST00000695450.1:c.2008+14C>A	ENSP00000511919.1:n.2008+14C>A
ENST00000695451.1:c.*2571+14C>A	ENSP00000511920.1:n.*2571+14C>A
ENST00000695453.1:c.2752+14C>A	ENSP00000511921.1:n.2752+14C>A
ENST00000695454.1:c.2803+14C>A	ENSP00000511922.1:n.2803+14C>A
ENST00000695455.1:c.2662+14C>A	ENSP00000511923.1:n.2662+14C>A
ENST00000695458.1:n.524+14C>A
ENST00000695488.1:c.2809+14C>A	ENSP00000511959.1:n.2809+14C>A
ENST00000695505.1:n.2967+14C>A
ENST00000695506.1:n.461+14C>A
ENST00000695507.1:c.*334+14C>A	ENSP00000511970.1:n.*334+14C>A
ENST00000695510.1:c.2809+14C>A	ENSP00000511973.1:n.2809+14C>A
ENST00000695511.1:c.2809+14C>A	ENSP00000511974.1:n.2809+14C>A
ENST00000695512.1:c.2629+14C>A	ENSP00000511975.1:n.2629+14C>A
ENST00000695513.1:c.2674+14C>A	ENSP00000511976.1:n.2674+14C>A
ENST00000695515.1:c.2809+14C>A	ENSP00000511978.1:n.2809+14C>A
ENST00000255194.11:c.2809+14C>A MANE Select	ENSP00000255194.7:n.2809+14C>A
ENST00000255194.10:c.2809+14C>A	ENSP00000255194.6:n.2809+14C>A
ENST00000519295.5:c.2662+14C>A	ENSP00000430597.1:n.2662+14C>A
ENST00000522901.1:c.108+14C>A
ENST00000523204.1:n.609+14C>A
NM_001271769.1:c.2662+14C>A	NP_001258698.1:n.2662+14C>A
NM_003664.4:c.2809+14C>A , LRG_170t1:c.2809+14C>A	NP_003655.3:n.2809+14C>A
XM_005248618.2:c.2809+14C>A	XP_005248675.1:n.2809+14C>A
XM_005248618.4:c.2809+14C>A	XP_005248675.1:n.2809+14C>A
XM_017010001.1:c.2662+14C>A	XP_016865490.1:n.2662+14C>A
NM_001271769.2:c.2662+14C>A	NP_001258698.1:n.2662+14C>A
NM_003664.5:c.2809+14C>A MANE Select	NP_003655.3:n.2809+14C>A