Canonical Allele Identifier: CA16609495
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402177
dbSNP Id: rs1060499756

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113897860C>A , CM000663.2:g.113897860C>A GRCh38
NC_000001.10:g.114440482C>A , CM000663.1:g.114440482C>A GRCh37
NC_000001.9:g.114242005C>A NCBI36
NG_031901.1:g.12260G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369564.6:c.1057G>T (AP4B1) ENSP00000358577.2:p.Glu353Ter
ENST00000369567.6:c.778G>T (AP4B1) ENSP00000358580.1:p.Glu260Ter
ENST00000369571.3:c.1282G>T (AP4B1) ENSP00000358584.3:p.Glu428Ter
ENST00000432415.6:c.778G>T (AP4B1) ENSP00000393622.2:p.Glu260Ter
ENST00000460653.2:c.*352G>T (AP4B1) ENSP00000518881.1:n.*352G>T
ENST00000484201.6:c.*32G>T (AP4B1) ENSP00000518883.1:n.*32G>T
ENST00000489499.6:c.*624G>T (AP4B1) ENSP00000518882.1:n.*624G>T
ENST00000713588.1:c.*393G>T (AP4B1) ENSP00000518880.1:n.*393G>T
ENST00000713590.1:c.1282G>T (AP4B1) ENSP00000518886.1:p.Glu428Ter
ENST00000369569.6:c.1282G>T (AP4B1) MANE Select ENSP00000358582.1:p.Glu428Ter
ENST00000256658.8:c.1282G>T (AP4B1) ENSP00000256658.4:p.Glu428Ter
ENST00000369567.5:c.778G>T (AP4B1) ENSP00000358580.1:p.Glu260Ter
ENST00000369569.5:c.1282G>T (AP4B1) ENSP00000358582.1:p.Glu428Ter
ENST00000462591.1:n.80G>T (AP4B1)
ENST00000479285.5:n.510G>T (AP4B1)
ENST00000479801.1:n.116G>T (AP4B1)
ENST00000484201.5:n.844G>T (AP4B1)
NM_001253852.1:c.1282G>T (AP4B1) NP_001240781.1:p.Glu428Ter
NM_001253852.2:c.1282G>T (AP4B1) NP_001240781.1:p.Glu428Ter
NM_001253853.1:c.985G>T (AP4B1) NP_001240782.1:p.Glu329Ter
NM_001253853.2:c.985G>T (AP4B1) NP_001240782.1:p.Glu329Ter
NM_001308312.1:c.778G>T (AP4B1) NP_001295241.1:p.Glu260Ter
NM_006594.3:c.1282G>T (AP4B1) NP_006585.2:p.Glu428Ter
NM_006594.4:c.1282G>T (AP4B1) NP_006585.2:p.Glu428Ter
NR_037864.1:n.247-8C>A (AP4B1-AS1)
NR_125965.1:n.415-8C>A (AP4B1-AS1)
XM_005270381.2:c.1198+858G>T (AP4B1) XP_005270438.1:n.1198+858G>T
XM_011540523.1:c.1057G>T (AP4B1) XP_011538825.1:p.Glu353Ter
XM_011540524.1:c.1057G>T (AP4B1) XP_011538826.1:p.Glu353Ter
XM_011540525.1:c.1003G>T (AP4B1) XP_011538827.1:p.Glu335Ter
XM_011540527.1:c.664G>T (AP4B1) XP_011538829.1:p.Glu222Ter
XM_011540528.1:c.307G>T (AP4B1) XP_011538830.1:p.Glu103Ter
XR_246227.1:n.1464G>T (AP4B1)
XM_011540523.3:c.1057G>T (AP4B1) XP_011538825.1:p.Glu353Ter
XM_011540525.3:c.1003G>T (AP4B1) XP_011538827.1:p.Glu335Ter
XM_017000089.2:c.1198+858G>T (AP4B1) XP_016855578.1:n.1198+858G>T
XM_017000090.1:c.778G>T (AP4B1) XP_016855579.1:p.Glu260Ter
XM_017000091.2:c.919+858G>T (AP4B1) XP_016855580.1:n.919+858G>T
XM_017000092.2:c.307G>T (AP4B1) XP_016855581.1:p.Glu103Ter
XM_024452422.1:c.1003G>T (AP4B1) XP_024308190.1:p.Glu335Ter
XM_024452423.1:c.1198+858G>T (AP4B1) XP_024308191.1:n.1198+858G>T
XM_024452435.1:c.973+858G>T (AP4B1) XP_024308203.1:n.973+858G>T
XM_024452441.1:c.694+858G>T (AP4B1) XP_024308209.1:n.694+858G>T
XR_001736928.2:n.1712G>T (AP4B1)
XR_001736930.2:n.1856G>T (AP4B1)
XR_002958805.1:n.1484G>T (AP4B1)
XR_002958806.1:n.1753G>T (AP4B1)
XR_002958807.1:n.1592G>T (AP4B1)
NM_001253852.3:c.1282G>T (AP4B1) MANE Select NP_001240781.1:p.Glu428Ter
NM_001253853.3:c.985G>T (AP4B1) NP_001240782.1:p.Glu329Ter
NM_001308312.2:c.778G>T (AP4B1) NP_001295241.1:p.Glu260Ter
NM_006594.5:c.1282G>T (AP4B1) NP_006585.2:p.Glu428Ter