Canonical Allele Identifier: CA354052
Gene: AP3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224760
ClinVar RCV Id: RCV000210287
dbSNP Id: rs869312835

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78039150G>C , CM000667.2:g.78039150G>C GRCh38
NC_000005.9:g.77334974G>C , CM000667.1:g.77334974G>C GRCh37
NC_000005.8:g.77370730G>C NCBI36
NG_007268.1:g.260555C>G , LRG_170:g.260555C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000519295.6:c.2555C>G ENSP00000430597.1:p.Ser852Cys
ENST00000523204.2:n.502C>G
ENST00000695447.1:c.2595C>G ENSP00000511917.1:n.2595C>G
ENST00000695450.1:c.1901C>G ENSP00000511919.1:p.Ser634Cys
ENST00000695451.1:c.*2464C>G ENSP00000511920.1:n.*2464C>G
ENST00000695453.1:c.2645C>G ENSP00000511921.1:p.Ser882Cys
ENST00000695454.1:c.2696C>G ENSP00000511922.1:p.Ser899Cys
ENST00000695455.1:c.2555C>G ENSP00000511923.1:p.Ser852Cys
ENST00000695458.1:n.417C>G
ENST00000695488.1:c.2702C>G ENSP00000511959.1:p.Ser901Cys
ENST00000695505.1:n.2860C>G
ENST00000695506.1:n.354C>G
ENST00000695507.1:c.*227C>G ENSP00000511970.1:n.*227C>G
ENST00000695510.1:c.2702C>G ENSP00000511973.1:p.Ser901Cys
ENST00000695511.1:c.2702C>G ENSP00000511974.1:p.Ser901Cys
ENST00000695512.1:c.2522C>G ENSP00000511975.1:p.Ser841Cys
ENST00000695513.1:c.2567C>G ENSP00000511976.1:p.Ser856Cys
ENST00000695515.1:c.2702C>G ENSP00000511978.1:p.Ser901Cys
ENST00000255194.11:c.2702C>G MANE Select ENSP00000255194.7:p.Ser901Cys
ENST00000255194.10:c.2702C>G ENSP00000255194.6:p.Ser901Cys
ENST00000519295.5:c.2555C>G ENSP00000430597.1:p.Ser852Cys
ENST00000522901.1:c.1C>G
ENST00000523204.1:n.502C>G
NM_001271769.1:c.2555C>G NP_001258698.1:p.Ser852Cys
NM_003664.4:c.2702C>G , LRG_170t1:c.2702C>G NP_003655.3:p.Ser901Cys
XM_005248618.2:c.2702C>G XP_005248675.1:p.Ser901Cys
XM_005248618.4:c.2702C>G XP_005248675.1:p.Ser901Cys
XM_017010001.1:c.2555C>G XP_016865490.1:p.Ser852Cys
NM_001271769.2:c.2555C>G NP_001258698.1:p.Ser852Cys
NM_003664.5:c.2702C>G MANE Select NP_003655.3:p.Ser901Cys