Canonical Allele Identifier: CA341710630
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896446C>A , CM000663.2:g.113896446C>A GRCh38
NC_000001.10:g.114439068C>A , CM000663.1:g.114439068C>A GRCh37
NC_000001.9:g.114240591C>A NCBI36
NG_031901.1:g.13674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1097G>T (AP4B1) ENSP00000358577.2:p.Trp366Leu
ENST00000369567.6:c.818G>T (AP4B1) ENSP00000358580.1:p.Trp273Leu
ENST00000369571.3:c.1322G>T (AP4B1) ENSP00000358584.3:p.Trp441Leu
ENST00000432415.6:c.818G>T (AP4B1) ENSP00000393622.2:p.Trp273Leu
ENST00000460653.2:c.*392G>T (AP4B1) ENSP00000518881.1:n.*392G>T
ENST00000484201.6:c.*72G>T (AP4B1) ENSP00000518883.1:n.*72G>T
ENST00000489499.6:c.*664G>T (AP4B1) ENSP00000518882.1:n.*664G>T
ENST00000713588.1:c.*433G>T (AP4B1) ENSP00000518880.1:n.*433G>T
ENST00000713590.1:c.1322G>T (AP4B1) ENSP00000518886.1:p.Trp441Leu
ENST00000369569.6:c.1322G>T (AP4B1) MANE Select ENSP00000358582.1:p.Trp441Leu
ENST00000256658.8:c.1322G>T (AP4B1) ENSP00000256658.4:p.Trp441Leu
ENST00000369567.5:c.818G>T (AP4B1) ENSP00000358580.1:p.Trp273Leu
ENST00000369569.5:c.1322G>T (AP4B1) ENSP00000358582.1:p.Trp441Leu
ENST00000462591.1:n.1494G>T (AP4B1)
ENST00000479285.5:n.550G>T (AP4B1)
ENST00000479801.1:n.156G>T (AP4B1)
ENST00000484201.5:n.884G>T (AP4B1)
NM_001253852.1:c.1322G>T (AP4B1) NP_001240781.1:p.Trp441Leu
NM_001253852.2:c.1322G>T (AP4B1) NP_001240781.1:p.Trp441Leu
NM_001253853.1:c.1025G>T (AP4B1) NP_001240782.1:p.Trp342Leu
NM_001253853.2:c.1025G>T (AP4B1) NP_001240782.1:p.Trp342Leu
NM_001308312.1:c.818G>T (AP4B1) NP_001295241.1:p.Trp273Leu
NM_006594.3:c.1322G>T (AP4B1) NP_006585.2:p.Trp441Leu
NM_006594.4:c.1322G>T (AP4B1) NP_006585.2:p.Trp441Leu
NR_037864.1:n.247-1422C>A (AP4B1-AS1)
NR_125965.1:n.415-1422C>A (AP4B1-AS1)
XM_005270381.2:c.1199-408G>T (AP4B1) XP_005270438.1:n.1199-408G>T
XM_011540523.1:c.1097G>T (AP4B1) XP_011538825.1:p.Trp366Leu
XM_011540524.1:c.1097G>T (AP4B1) XP_011538826.1:p.Trp366Leu
XM_011540525.1:c.1043G>T (AP4B1) XP_011538827.1:p.Trp348Leu
XM_011540527.1:c.704G>T (AP4B1) XP_011538829.1:p.Trp235Leu
XM_011540528.1:c.347G>T (AP4B1) XP_011538830.1:p.Trp116Leu
XR_246227.1:n.1485-408G>T (AP4B1)
XM_011540523.3:c.1097G>T (AP4B1) XP_011538825.1:p.Trp366Leu
XM_011540525.3:c.1043G>T (AP4B1) XP_011538827.1:p.Trp348Leu
XM_017000089.2:c.1199-408G>T (AP4B1) XP_016855578.1:n.1199-408G>T
XM_017000090.1:c.818G>T (AP4B1) XP_016855579.1:p.Trp273Leu
XM_017000091.2:c.920-408G>T (AP4B1) XP_016855580.1:n.920-408G>T
XM_017000092.2:c.347G>T (AP4B1) XP_016855581.1:p.Trp116Leu
XM_024452422.1:c.1043G>T (AP4B1) XP_024308190.1:p.Trp348Leu
XM_024452423.1:c.1199-408G>T (AP4B1) XP_024308191.1:n.1199-408G>T
XM_024452435.1:c.974-408G>T (AP4B1) XP_024308203.1:n.974-408G>T
XM_024452441.1:c.695-408G>T (AP4B1) XP_024308209.1:n.695-408G>T
XR_001736928.2:n.1752G>T (AP4B1)
XR_001736930.2:n.1896G>T (AP4B1)
XR_002958805.1:n.1505-408G>T (AP4B1)
XR_002958806.1:n.1793G>T (AP4B1)
XR_002958807.1:n.1632G>T (AP4B1)
NM_001253852.3:c.1322G>T (AP4B1) MANE Select NP_001240781.1:p.Trp441Leu
NM_001253853.3:c.1025G>T (AP4B1) NP_001240782.1:p.Trp342Leu
NM_001308312.2:c.818G>T (AP4B1) NP_001295241.1:p.Trp273Leu
NM_006594.5:c.1322G>T (AP4B1) NP_006585.2:p.Trp441Leu