Canonical Allele Identifier: CA1189946110
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896463C= , CM000663.2:g.113896463C= GRCh38
NC_000001.10:g.114439085C= , CM000663.1:g.114439085C= GRCh37
NC_000001.9:g.114240608C= NCBI36
NG_031901.1:g.13657G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1080G= (AP4B1) ENSP00000358577.2:p.Gly360=
ENST00000369567.6:c.801G= (AP4B1) ENSP00000358580.1:p.Gly267=
ENST00000369571.3:c.1305G= (AP4B1) ENSP00000358584.3:p.Gly435=
ENST00000432415.6:c.801G= (AP4B1) ENSP00000393622.2:p.Gly267=
ENST00000460653.2:c.*375G= (AP4B1) ENSP00000518881.1:n.*375G=
ENST00000484201.6:c.*55G= (AP4B1) ENSP00000518883.1:n.*55G=
ENST00000489499.6:c.*647G= (AP4B1) ENSP00000518882.1:n.*647G=
ENST00000713588.1:c.*416G= (AP4B1) ENSP00000518880.1:n.*416G=
ENST00000713590.1:c.1305G= (AP4B1) ENSP00000518886.1:p.Gly435=
ENST00000369569.6:c.1305G= (AP4B1) MANE Select ENSP00000358582.1:p.Gly435=
ENST00000256658.8:c.1305G= (AP4B1) ENSP00000256658.4:p.Gly435=
ENST00000369567.5:c.801G= (AP4B1) ENSP00000358580.1:p.Gly267=
ENST00000369569.5:c.1305G= (AP4B1) ENSP00000358582.1:p.Gly435=
ENST00000462591.1:n.1477G= (AP4B1)
ENST00000479285.5:n.533G= (AP4B1)
ENST00000479801.1:n.139G= (AP4B1)
ENST00000484201.5:n.867G= (AP4B1)
NM_001253852.1:c.1305G= (AP4B1) NP_001240781.1:p.Gly435=
NM_001253852.2:c.1305G= (AP4B1) NP_001240781.1:p.Gly435=
NM_001253853.1:c.1008G= (AP4B1) NP_001240782.1:p.Gly336=
NM_001253853.2:c.1008G= (AP4B1) NP_001240782.1:p.Gly336=
NM_001308312.1:c.801G= (AP4B1) NP_001295241.1:p.Gly267=
NM_006594.3:c.1305G= (AP4B1) NP_006585.2:p.Gly435=
NM_006594.4:c.1305G= (AP4B1) NP_006585.2:p.Gly435=
NR_037864.1:n.247-1405C= (AP4B1-AS1)
NR_125965.1:n.415-1405C= (AP4B1-AS1)
XM_005270381.2:c.1199-425G= (AP4B1) XP_005270438.1:n.1199-425G=
XM_011540523.1:c.1080G= (AP4B1) XP_011538825.1:p.Gly360=
XM_011540524.1:c.1080G= (AP4B1) XP_011538826.1:p.Gly360=
XM_011540525.1:c.1026G= (AP4B1) XP_011538827.1:p.Gly342=
XM_011540527.1:c.687G= (AP4B1) XP_011538829.1:p.Gly229=
XM_011540528.1:c.330G= (AP4B1) XP_011538830.1:p.Gly110=
XR_246227.1:n.1485-425G= (AP4B1)
XM_011540523.3:c.1080G= (AP4B1) XP_011538825.1:p.Gly360=
XM_011540525.3:c.1026G= (AP4B1) XP_011538827.1:p.Gly342=
XM_017000089.2:c.1199-425G= (AP4B1) XP_016855578.1:n.1199-425G=
XM_017000090.1:c.801G= (AP4B1) XP_016855579.1:p.Gly267=
XM_017000091.2:c.920-425G= (AP4B1) XP_016855580.1:n.920-425G=
XM_017000092.2:c.330G= (AP4B1) XP_016855581.1:p.Gly110=
XM_024452422.1:c.1026G= (AP4B1) XP_024308190.1:p.Gly342=
XM_024452423.1:c.1199-425G= (AP4B1) XP_024308191.1:n.1199-425G=
XM_024452435.1:c.974-425G= (AP4B1) XP_024308203.1:n.974-425G=
XM_024452441.1:c.695-425G= (AP4B1) XP_024308209.1:n.695-425G=
XR_001736928.2:n.1735G= (AP4B1)
XR_001736930.2:n.1879G= (AP4B1)
XR_002958805.1:n.1505-425G= (AP4B1)
XR_002958806.1:n.1776G= (AP4B1)
XR_002958807.1:n.1615G= (AP4B1)
NM_001253852.3:c.1305G= (AP4B1) MANE Select NP_001240781.1:p.Gly435=
NM_001253853.3:c.1008G= (AP4B1) NP_001240782.1:p.Gly336=
NM_001308312.2:c.801G= (AP4B1) NP_001295241.1:p.Gly267=
NM_006594.5:c.1305G= (AP4B1) NP_006585.2:p.Gly435=