Canonical Allele Identifier: CA1139858292
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896329A= , CM000663.2:g.113896329A= GRCh38
NC_000001.10:g.114438951A= , CM000663.1:g.114438951A= GRCh37
NC_000001.9:g.114240474A= NCBI36
NG_031901.1:g.13791T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1214T= (AP4B1) ENSP00000358577.2:p.Leu405=
ENST00000369567.6:c.935T= (AP4B1) ENSP00000358580.1:p.Leu312=
ENST00000369571.3:c.1439T= (AP4B1) ENSP00000358584.3:p.Leu480=
ENST00000432415.6:c.935T= (AP4B1) ENSP00000393622.2:p.Leu312=
ENST00000460653.2:c.*509T= (AP4B1) ENSP00000518881.1:n.*509T=
ENST00000484201.6:c.*189T= (AP4B1) ENSP00000518883.1:n.*189T=
ENST00000489499.6:c.*781T= (AP4B1) ENSP00000518882.1:n.*781T=
ENST00000713588.1:c.*550T= (AP4B1) ENSP00000518880.1:n.*550T=
ENST00000713590.1:c.1439T= (AP4B1) ENSP00000518886.1:p.Leu480=
ENST00000369569.6:c.1439T= (AP4B1) MANE Select ENSP00000358582.1:p.Leu480=
ENST00000256658.8:c.1439T= (AP4B1) ENSP00000256658.4:p.Leu480=
ENST00000369567.5:c.935T= (AP4B1) ENSP00000358580.1:p.Leu312=
ENST00000369569.5:c.1439T= (AP4B1) ENSP00000358582.1:p.Leu480=
ENST00000462591.1:n.1611T= (AP4B1)
ENST00000479285.5:n.667T= (AP4B1)
ENST00000479801.1:n.273T= (AP4B1)
NM_001253852.1:c.1439T= (AP4B1) NP_001240781.1:p.Leu480=
NM_001253852.2:c.1439T= (AP4B1) NP_001240781.1:p.Leu480=
NM_001253853.1:c.1142T= (AP4B1) NP_001240782.1:p.Leu381=
NM_001253853.2:c.1142T= (AP4B1) NP_001240782.1:p.Leu381=
NM_001308312.1:c.935T= (AP4B1) NP_001295241.1:p.Leu312=
NM_006594.3:c.1439T= (AP4B1) NP_006585.2:p.Leu480=
NM_006594.4:c.1439T= (AP4B1) NP_006585.2:p.Leu480=
NR_037864.1:n.247-1539A= (AP4B1-AS1)
NR_125965.1:n.415-1539A= (AP4B1-AS1)
XM_005270381.2:c.1199-291T= (AP4B1) XP_005270438.1:n.1199-291T=
XM_011540523.1:c.1214T= (AP4B1) XP_011538825.1:p.Leu405=
XM_011540524.1:c.1214T= (AP4B1) XP_011538826.1:p.Leu405=
XM_011540525.1:c.1160T= (AP4B1) XP_011538827.1:p.Leu387=
XM_011540527.1:c.821T= (AP4B1) XP_011538829.1:p.Leu274=
XM_011540528.1:c.464T= (AP4B1) XP_011538830.1:p.Leu155=
XR_246227.1:n.1485-291T= (AP4B1)
XM_011540523.3:c.1214T= (AP4B1) XP_011538825.1:p.Leu405=
XM_011540525.3:c.1160T= (AP4B1) XP_011538827.1:p.Leu387=
XM_017000089.2:c.1199-291T= (AP4B1) XP_016855578.1:n.1199-291T=
XM_017000090.1:c.935T= (AP4B1) XP_016855579.1:p.Leu312=
XM_017000091.2:c.920-291T= (AP4B1) XP_016855580.1:n.920-291T=
XM_017000092.2:c.464T= (AP4B1) XP_016855581.1:p.Leu155=
XM_024452422.1:c.1160T= (AP4B1) XP_024308190.1:p.Leu387=
XM_024452423.1:c.1199-291T= (AP4B1) XP_024308191.1:n.1199-291T=
XM_024452435.1:c.974-291T= (AP4B1) XP_024308203.1:n.974-291T=
XM_024452441.1:c.695-291T= (AP4B1) XP_024308209.1:n.695-291T=
XR_001736928.2:n.1869T= (AP4B1)
XR_001736930.2:n.2013T= (AP4B1)
XR_002958805.1:n.1505-291T= (AP4B1)
XR_002958806.1:n.1910T= (AP4B1)
XR_002958807.1:n.1749T= (AP4B1)
NM_001253852.3:c.1439T= (AP4B1) MANE Select NP_001240781.1:p.Leu480=
NM_001253853.3:c.1142T= (AP4B1) NP_001240782.1:p.Leu381=
NM_001308312.2:c.935T= (AP4B1) NP_001295241.1:p.Leu312=
NM_006594.5:c.1439T= (AP4B1) NP_006585.2:p.Leu480=