Canonical Allele Identifier: CA341710401
Community Standard Title: NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896403A>T , CM000663.2:g.113896403A>T GRCh38
NC_000001.10:g.114439025A>T , CM000663.1:g.114439025A>T GRCh37
NC_000001.9:g.114240548A>T NCBI36
NG_031901.1:g.13717T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.1365T>A (AP4B1) MANE Select NP_001240781.1:p.Tyr455Ter
ENST00000369569.6:c.1365T>A (AP4B1) MANE Select ENSP00000358582.1:p.Tyr455Ter
NM_001253852.1:c.1365T>A (AP4B1) NP_001240781.1:p.Tyr455Ter
NM_001253852.2:c.1365T>A (AP4B1) NP_001240781.1:p.Tyr455Ter
NM_001253853.1:c.1068T>A (AP4B1) NP_001240782.1:p.Tyr356Ter
NM_001253853.2:c.1068T>A (AP4B1) NP_001240782.1:p.Tyr356Ter
NM_001253853.3:c.1068T>A (AP4B1) NP_001240782.1:p.Tyr356Ter
NM_001308312.1:c.861T>A (AP4B1) NP_001295241.1:p.Tyr287Ter
NM_001308312.2:c.861T>A (AP4B1) NP_001295241.1:p.Tyr287Ter
NM_006594.3:c.1365T>A (AP4B1) NP_006585.2:p.Tyr455Ter
NM_006594.4:c.1365T>A (AP4B1) NP_006585.2:p.Tyr455Ter
NM_006594.5:c.1365T>A (AP4B1) NP_006585.2:p.Tyr455Ter
NR_037864.1:n.247-1465A>T (AP4B1-AS1)
NR_125965.1:n.415-1465A>T (AP4B1-AS1)
ENST00000256658.8:c.1365T>A (AP4B1) ENSP00000256658.4:p.Tyr455Ter
ENST00000369564.6:c.1140T>A (AP4B1) ENSP00000358577.2:p.Tyr380Ter
ENST00000369567.5:c.861T>A (AP4B1) ENSP00000358580.1:p.Tyr287Ter
ENST00000369567.6:c.861T>A (AP4B1) ENSP00000358580.1:p.Tyr287Ter
ENST00000369569.5:c.1365T>A (AP4B1) ENSP00000358582.1:p.Tyr455Ter
ENST00000369571.3:c.1365T>A (AP4B1) ENSP00000358584.3:p.Tyr455Ter
ENST00000432415.6:c.861T>A (AP4B1) ENSP00000393622.2:p.Tyr287Ter
ENST00000460653.2:c.*435T>A (AP4B1) ENSP00000518881.1:n.*435T>A
ENST00000462591.1:n.1537T>A (AP4B1)
ENST00000479285.5:n.593T>A (AP4B1)
ENST00000479801.1:n.199T>A (AP4B1)
ENST00000484201.5:n.927T>A (AP4B1)
ENST00000484201.6:c.*115T>A (AP4B1) ENSP00000518883.1:n.*115T>A
ENST00000489499.6:c.*707T>A (AP4B1) ENSP00000518882.1:n.*707T>A
ENST00000713588.1:c.*476T>A (AP4B1) ENSP00000518880.1:n.*476T>A
ENST00000713590.1:c.1365T>A (AP4B1) ENSP00000518886.1:p.Tyr455Ter
XM_005270381.2:c.1199-365T>A (AP4B1) XP_005270438.1:n.1199-365T>A
XM_011540523.1:c.1140T>A (AP4B1) XP_011538825.1:p.Tyr380Ter
XM_011540523.3:c.1140T>A (AP4B1) XP_011538825.1:p.Tyr380Ter
XM_011540524.1:c.1140T>A (AP4B1) XP_011538826.1:p.Tyr380Ter
XM_011540525.1:c.1086T>A (AP4B1) XP_011538827.1:p.Tyr362Ter
XM_011540525.3:c.1086T>A (AP4B1) XP_011538827.1:p.Tyr362Ter
XM_011540527.1:c.747T>A (AP4B1) XP_011538829.1:p.Tyr249Ter
XM_011540528.1:c.390T>A (AP4B1) XP_011538830.1:p.Tyr130Ter
XM_017000089.2:c.1199-365T>A (AP4B1) XP_016855578.1:n.1199-365T>A
XM_017000090.1:c.861T>A (AP4B1) XP_016855579.1:p.Tyr287Ter
XM_017000091.2:c.920-365T>A (AP4B1) XP_016855580.1:n.920-365T>A
XM_017000092.2:c.390T>A (AP4B1) XP_016855581.1:p.Tyr130Ter
XM_024452422.1:c.1086T>A (AP4B1) XP_024308190.1:p.Tyr362Ter
XM_024452423.1:c.1199-365T>A (AP4B1) XP_024308191.1:n.1199-365T>A
XM_024452435.1:c.974-365T>A (AP4B1) XP_024308203.1:n.974-365T>A
XM_024452441.1:c.695-365T>A (AP4B1) XP_024308209.1:n.695-365T>A
XR_001736928.2:n.1795T>A (AP4B1)
XR_001736930.2:n.1939T>A (AP4B1)
XR_002958805.1:n.1505-365T>A (AP4B1)
XR_002958806.1:n.1836T>A (AP4B1)
XR_002958807.1:n.1675T>A (AP4B1)
XR_246227.1:n.1485-365T>A (AP4B1)