Canonical Allele Identifier: CA1189945961
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896037C= , CM000663.2:g.113896037C= GRCh38
NC_000001.10:g.114438659C= , CM000663.1:g.114438659C= GRCh37
NC_000001.9:g.114240182C= NCBI36
NG_031901.1:g.14083G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1287G= (AP4B1) ENSP00000358577.2:p.Glu429=
ENST00000369567.6:c.1008G= (AP4B1) ENSP00000358580.1:p.Glu336=
ENST00000369571.3:c.1512G= (AP4B1) ENSP00000358584.3:p.Glu504=
ENST00000432415.6:c.1008G= (AP4B1) ENSP00000393622.2:p.Glu336=
ENST00000460653.2:c.*582G= (AP4B1) ENSP00000518881.1:n.*582G=
ENST00000484201.6:c.*262G= (AP4B1) ENSP00000518883.1:n.*262G=
ENST00000489499.6:c.*854G= (AP4B1) ENSP00000518882.1:n.*854G=
ENST00000713588.1:c.*623G= (AP4B1) ENSP00000518880.1:n.*623G=
ENST00000713590.1:c.1512G= (AP4B1) ENSP00000518886.1:p.Glu504=
ENST00000369569.6:c.1512G= (AP4B1) MANE Select ENSP00000358582.1:p.Glu504=
ENST00000256658.8:c.1512G= (AP4B1) ENSP00000256658.4:p.Glu504=
ENST00000369567.5:c.1008G= (AP4B1) ENSP00000358580.1:p.Glu336=
ENST00000369569.5:c.1512G= (AP4B1) ENSP00000358582.1:p.Glu504=
ENST00000462591.1:n.1684G= (AP4B1)
ENST00000479285.5:n.959G= (AP4B1)
NM_001253852.1:c.1512G= (AP4B1) NP_001240781.1:p.Glu504=
NM_001253852.2:c.1512G= (AP4B1) NP_001240781.1:p.Glu504=
NM_001253853.1:c.1215G= (AP4B1) NP_001240782.1:p.Glu405=
NM_001253853.2:c.1215G= (AP4B1) NP_001240782.1:p.Glu405=
NM_001308312.1:c.1008G= (AP4B1) NP_001295241.1:p.Glu336=
NM_006594.3:c.1512G= (AP4B1) NP_006585.2:p.Glu504=
NM_006594.4:c.1512G= (AP4B1) NP_006585.2:p.Glu504=
NR_037864.1:n.247-1831C= (AP4B1-AS1)
NR_125965.1:n.415-1831C= (AP4B1-AS1)
XM_005270381.2:c.1200G= (AP4B1) XP_005270438.1:p.Glu400=
XM_011540523.1:c.1287G= (AP4B1) XP_011538825.1:p.Glu429=
XM_011540524.1:c.1287G= (AP4B1) XP_011538826.1:p.Glu429=
XM_011540525.1:c.1233G= (AP4B1) XP_011538827.1:p.Glu411=
XM_011540527.1:c.894G= (AP4B1) XP_011538829.1:p.Glu298=
XM_011540528.1:c.537G= (AP4B1) XP_011538830.1:p.Glu179=
XR_246227.1:n.1486G= (AP4B1)
XM_011540523.3:c.1287G= (AP4B1) XP_011538825.1:p.Glu429=
XM_011540525.3:c.1233G= (AP4B1) XP_011538827.1:p.Glu411=
XM_017000089.2:c.1200G= (AP4B1) XP_016855578.1:p.Glu400=
XM_017000090.1:c.1008G= (AP4B1) XP_016855579.1:p.Glu336=
XM_017000091.2:c.921G= (AP4B1) XP_016855580.1:p.Glu307=
XM_017000092.2:c.537G= (AP4B1) XP_016855581.1:p.Glu179=
XM_024452422.1:c.1233G= (AP4B1) XP_024308190.1:p.Glu411=
XM_024452423.1:c.1200G= (AP4B1) XP_024308191.1:p.Glu400=
XM_024452435.1:c.975G= (AP4B1) XP_024308203.1:p.Glu325=
XM_024452441.1:c.696G= (AP4B1) XP_024308209.1:p.Glu232=
XR_001736928.2:n.1942G= (AP4B1)
XR_001736930.2:n.2086G= (AP4B1)
XR_002958805.1:n.1506G= (AP4B1)
XR_002958806.1:n.1983G= (AP4B1)
XR_002958807.1:n.2041G= (AP4B1)
NM_001253852.3:c.1512G= (AP4B1) MANE Select NP_001240781.1:p.Glu504=
NM_001253853.3:c.1215G= (AP4B1) NP_001240782.1:p.Glu405=
NM_001308312.2:c.1008G= (AP4B1) NP_001295241.1:p.Glu336=
NM_006594.5:c.1512G= (AP4B1) NP_006585.2:p.Glu504=