Canonical Allele Identifier: CA1189947573
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113900190C= , CM000663.2:g.113900190C= GRCh38
NC_000001.10:g.114442812C= , CM000663.1:g.114442812C= GRCh37
NC_000001.9:g.114244335C= NCBI36
NG_031901.1:g.9930G=
NG_057565.1:g.572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.603G= (AP4B1) ENSP00000358577.2:p.Arg201=
ENST00000369567.6:c.324G= (AP4B1) ENSP00000358580.1:p.Arg108=
ENST00000369571.3:c.828G= (AP4B1) ENSP00000358584.3:p.Arg276=
ENST00000432415.6:c.324G= (AP4B1) ENSP00000393622.2:p.Arg108=
ENST00000460653.2:c.828G= (AP4B1) ENSP00000518881.1:p.Arg276=
ENST00000484201.6:c.523+80G= (AP4B1) ENSP00000518883.1:n.523+80G=
ENST00000489092.6:c.*496G= (AP4B1) ENSP00000518884.1:n.*496G=
ENST00000489499.6:c.*170G= (AP4B1) ENSP00000518882.1:n.*170G=
ENST00000713588.1:c.828G= (AP4B1) ENSP00000518880.1:p.Arg276=
ENST00000713590.1:c.828G= (AP4B1) ENSP00000518886.1:p.Arg276=
ENST00000369569.6:c.828G= (AP4B1) MANE Select ENSP00000358582.1:p.Arg276=
ENST00000256658.8:c.828G= (AP4B1) ENSP00000256658.4:p.Arg276=
ENST00000369564.5:c.603G= (AP4B1) ENSP00000358577.1:p.Arg201=
ENST00000369567.5:c.324G= (AP4B1) ENSP00000358580.1:p.Arg108=
ENST00000369569.5:c.828G= (AP4B1) ENSP00000358582.1:p.Arg276=
ENST00000432415.5:c.324G= (AP4B1) ENSP00000393622.1:p.Arg108=
ENST00000479285.5:n.56G= (AP4B1)
ENST00000484201.5:n.714+80G= (AP4B1)
ENST00000489092.5:n.827G= (AP4B1)
ENST00000489499.5:n.796G= (AP4B1)
NM_001253852.1:c.828G= (AP4B1) NP_001240781.1:p.Arg276=
NM_001253852.2:c.828G= (AP4B1) NP_001240781.1:p.Arg276=
NM_001253853.1:c.531G= (AP4B1) NP_001240782.1:p.Arg177=
NM_001253853.2:c.531G= (AP4B1) NP_001240782.1:p.Arg177=
NM_001308312.1:c.324G= (AP4B1) NP_001295241.1:p.Arg108=
NM_006594.3:c.828G= (AP4B1) NP_006585.2:p.Arg276=
NM_006594.4:c.828G= (AP4B1) NP_006585.2:p.Arg276=
NR_037864.1:n.687C= (AP4B1-AS1)
NR_125965.1:n.855C= (AP4B1-AS1)
XM_005270381.2:c.828G= (AP4B1) XP_005270438.1:p.Arg276=
XM_005270382.3:c.828G= (AP4B1) XP_005270439.1:p.Arg276=
XM_011540523.1:c.603G= (AP4B1) XP_011538825.1:p.Arg201=
XM_011540524.1:c.603G= (AP4B1) XP_011538826.1:p.Arg201=
XM_011540525.1:c.549G= (AP4B1) XP_011538827.1:p.Arg183=
XM_011540527.1:c.210G= (AP4B1) XP_011538829.1:p.Arg70=
XR_246227.1:n.1010G= (AP4B1)
XR_246228.2:n.1010G= (AP4B1)
XM_011540523.3:c.603G= (AP4B1) XP_011538825.1:p.Arg201=
XM_011540525.3:c.549G= (AP4B1) XP_011538827.1:p.Arg183=
XM_017000089.2:c.828G= (AP4B1) XP_016855578.1:p.Arg276=
XM_017000090.1:c.324G= (AP4B1) XP_016855579.1:p.Arg108=
XM_017000091.2:c.549G= (AP4B1) XP_016855580.1:p.Arg183=
XM_017000092.2:c.-417G= (AP4B1) XP_016855581.1:n.-417G=
XM_017000093.2:c.828G= (AP4B1) XP_016855582.1:p.Arg276=
XM_024452422.1:c.549G= (AP4B1) XP_024308190.1:p.Arg183=
XM_024452423.1:c.828G= (AP4B1) XP_024308191.1:p.Arg276=
XM_024452435.1:c.603G= (AP4B1) XP_024308203.1:p.Arg201=
XM_024452441.1:c.324G= (AP4B1) XP_024308209.1:p.Arg108=
XR_001736928.2:n.1030G= (AP4B1)
XR_001736930.2:n.1030G= (AP4B1)
XR_002958805.1:n.1030G= (AP4B1)
XR_002958806.1:n.1030G= (AP4B1)
XR_002958807.1:n.910G= (AP4B1)
NM_001253852.3:c.828G= (AP4B1) MANE Select NP_001240781.1:p.Arg276=
NM_001253853.3:c.531G= (AP4B1) NP_001240782.1:p.Arg177=
NM_001308312.2:c.324G= (AP4B1) NP_001295241.1:p.Arg108=
NM_006594.5:c.828G= (AP4B1) NP_006585.2:p.Arg276=