Canonical Allele Identifier: CA1015727
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895805C>T , CM000663.2:g.113895805C>T GRCh38
NC_000001.10:g.114438427C>T , CM000663.1:g.114438427C>T GRCh37
NC_000001.9:g.114239950C>T NCBI36
NG_031901.1:g.14315G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.1744G>A (AP4B1) MANE Select NP_001240781.1:p.Glu582Lys
ENST00000369569.6:c.1744G>A (AP4B1) MANE Select ENSP00000358582.1:p.Glu582Lys
NM_001253852.1:c.1744G>A (AP4B1) NP_001240781.1:p.Glu582Lys
NM_001253852.2:c.1744G>A (AP4B1) NP_001240781.1:p.Glu582Lys
NM_001253853.1:c.1447G>A (AP4B1) NP_001240782.1:p.Glu483Lys
NM_001253853.2:c.1447G>A (AP4B1) NP_001240782.1:p.Glu483Lys
NM_001253853.3:c.1447G>A (AP4B1) NP_001240782.1:p.Glu483Lys
NM_001308312.1:c.1240G>A (AP4B1) NP_001295241.1:p.Glu414Lys
NM_001308312.2:c.1240G>A (AP4B1) NP_001295241.1:p.Glu414Lys
NM_006594.3:c.1744G>A (AP4B1) NP_006585.2:p.Glu582Lys
NM_006594.4:c.1744G>A (AP4B1) NP_006585.2:p.Glu582Lys
NM_006594.5:c.1744G>A (AP4B1) NP_006585.2:p.Glu582Lys
NR_037864.1:n.247-2063C>T (AP4B1-AS1)
NR_125965.1:n.415-2063C>T (AP4B1-AS1)
ENST00000256658.8:c.1744G>A (AP4B1) ENSP00000256658.4:p.Glu582Lys
ENST00000369564.6:c.1519G>A (AP4B1) ENSP00000358577.2:p.Glu507Lys
ENST00000369567.5:c.1240G>A (AP4B1) ENSP00000358580.1:p.Glu414Lys
ENST00000369567.6:c.1240G>A (AP4B1) ENSP00000358580.1:p.Glu414Lys
ENST00000369569.5:c.1744G>A (AP4B1) ENSP00000358582.1:p.Glu582Lys
ENST00000369571.3:c.1744G>A (AP4B1) ENSP00000358584.3:p.Glu582Lys
ENST00000432415.6:c.1240G>A (AP4B1) ENSP00000393622.2:p.Glu414Lys
ENST00000460653.2:c.*814G>A (AP4B1) ENSP00000518881.1:n.*814G>A
ENST00000462591.1:n.1916G>A (AP4B1)
ENST00000479285.5:n.1191G>A (AP4B1)
ENST00000484201.6:c.*494G>A (AP4B1) ENSP00000518883.1:n.*494G>A
ENST00000489499.6:c.*1086G>A (AP4B1) ENSP00000518882.1:n.*1086G>A
ENST00000713588.1:c.*855G>A (AP4B1) ENSP00000518880.1:n.*855G>A
ENST00000713590.1:c.1744G>A (AP4B1) ENSP00000518886.1:p.Glu582Lys
XM_005270381.2:c.1432G>A (AP4B1) XP_005270438.1:p.Glu478Lys
XM_011540523.1:c.1519G>A (AP4B1) XP_011538825.1:p.Glu507Lys
XM_011540523.3:c.1519G>A (AP4B1) XP_011538825.1:p.Glu507Lys
XM_011540524.1:c.1519G>A (AP4B1) XP_011538826.1:p.Glu507Lys
XM_011540525.1:c.1465G>A (AP4B1) XP_011538827.1:p.Glu489Lys
XM_011540525.3:c.1465G>A (AP4B1) XP_011538827.1:p.Glu489Lys
XM_011540527.1:c.1126G>A (AP4B1) XP_011538829.1:p.Glu376Lys
XM_011540528.1:c.769G>A (AP4B1) XP_011538830.1:p.Glu257Lys
XM_017000089.2:c.1432G>A (AP4B1) XP_016855578.1:p.Glu478Lys
XM_017000090.1:c.1240G>A (AP4B1) XP_016855579.1:p.Glu414Lys
XM_017000091.2:c.1153G>A (AP4B1) XP_016855580.1:p.Glu385Lys
XM_017000092.2:c.769G>A (AP4B1) XP_016855581.1:p.Glu257Lys
XM_024452422.1:c.1465G>A (AP4B1) XP_024308190.1:p.Glu489Lys
XM_024452423.1:c.1432G>A (AP4B1) XP_024308191.1:p.Glu478Lys
XM_024452435.1:c.1207G>A (AP4B1) XP_024308203.1:p.Glu403Lys
XM_024452441.1:c.928G>A (AP4B1) XP_024308209.1:p.Glu310Lys
XR_001736928.2:n.2174G>A (AP4B1)
XR_001736930.2:n.2318G>A (AP4B1)
XR_002958805.1:n.1738G>A (AP4B1)
XR_002958806.1:n.2215G>A (AP4B1)
XR_002958807.1:n.2273G>A (AP4B1)
XR_246227.1:n.1718G>A (AP4B1)