Canonical Allele Identifier: CA445400214

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 2012718
• ClinVar RCV Id: RCV002843321
• dbSNP Id: rs1747940673
• gnomAD v3: 5-78039137-T-C
• gnomAD v4: 5-78039137-T-C
• MyVariant Identifiers: chr5:g.77334961T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039137T>C , CM000667.2:g.78039137T>C	GRCh38
NC_000005.9:g.77334961T>C , CM000667.1:g.77334961T>C	GRCh37
NC_000005.8:g.77370717T>C	NCBI36
NG_007268.1:g.260568A>G , LRG_170:g.260568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2568A>G	ENSP00000430597.1:p.Thr856=
ENST00000523204.2:n.515A>G
ENST00000695447.1:c.2608A>G	ENSP00000511917.1:n.2608A>G
ENST00000695450.1:c.1914A>G	ENSP00000511919.1:p.Thr638=
ENST00000695451.1:c.*2477A>G	ENSP00000511920.1:n.*2477A>G
ENST00000695453.1:c.2658A>G	ENSP00000511921.1:p.Thr886=
ENST00000695454.1:c.2709A>G	ENSP00000511922.1:p.Thr903=
ENST00000695455.1:c.2568A>G	ENSP00000511923.1:p.Thr856=
ENST00000695458.1:n.430A>G
ENST00000695488.1:c.2715A>G	ENSP00000511959.1:p.Thr905=
ENST00000695505.1:n.2873A>G
ENST00000695506.1:n.367A>G
ENST00000695507.1:c.*240A>G	ENSP00000511970.1:n.*240A>G
ENST00000695510.1:c.2715A>G	ENSP00000511973.1:p.Thr905=
ENST00000695511.1:c.2715A>G	ENSP00000511974.1:p.Thr905=
ENST00000695512.1:c.2535A>G	ENSP00000511975.1:p.Thr845=
ENST00000695513.1:c.2580A>G	ENSP00000511976.1:p.Thr860=
ENST00000695515.1:c.2715A>G	ENSP00000511978.1:p.Thr905=
ENST00000255194.11:c.2715A>G MANE Select	ENSP00000255194.7:p.Thr905=
ENST00000255194.10:c.2715A>G	ENSP00000255194.6:p.Thr905=
ENST00000519295.5:c.2568A>G	ENSP00000430597.1:p.Thr856=
ENST00000522901.1:c.14A>G
ENST00000523204.1:n.515A>G
NM_001271769.1:c.2568A>G	NP_001258698.1:p.Thr856=
NM_003664.4:c.2715A>G , LRG_170t1:c.2715A>G	NP_003655.3:p.Thr905=
XM_005248618.2:c.2715A>G	XP_005248675.1:p.Thr905=
XM_005248618.4:c.2715A>G	XP_005248675.1:p.Thr905=
XM_017010001.1:c.2568A>G	XP_016865490.1:p.Thr856=
NM_001271769.2:c.2568A>G	NP_001258698.1:p.Thr856=
NM_003664.5:c.2715A>G MANE Select	NP_003655.3:p.Thr905=