Canonical Allele Identifier: CA1015756
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895992A>T , CM000663.2:g.113895992A>T GRCh38
NC_000001.10:g.114438614A>T , CM000663.1:g.114438614A>T GRCh37
NC_000001.9:g.114240137A>T NCBI36
NG_031901.1:g.14128T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1332T>A (AP4B1) ENSP00000358577.2:p.Tyr444Ter
ENST00000369567.6:c.1053T>A (AP4B1) ENSP00000358580.1:p.Tyr351Ter
ENST00000369571.3:c.1557T>A (AP4B1) ENSP00000358584.3:p.Tyr519Ter
ENST00000432415.6:c.1053T>A (AP4B1) ENSP00000393622.2:p.Tyr351Ter
ENST00000460653.2:c.*627T>A (AP4B1) ENSP00000518881.1:n.*627T>A
ENST00000484201.6:c.*307T>A (AP4B1) ENSP00000518883.1:n.*307T>A
ENST00000489499.6:c.*899T>A (AP4B1) ENSP00000518882.1:n.*899T>A
ENST00000713588.1:c.*668T>A (AP4B1) ENSP00000518880.1:n.*668T>A
ENST00000713590.1:c.1557T>A (AP4B1) ENSP00000518886.1:p.Tyr519Ter
ENST00000369569.6:c.1557T>A (AP4B1) MANE Select ENSP00000358582.1:p.Tyr519Ter
ENST00000256658.8:c.1557T>A (AP4B1) ENSP00000256658.4:p.Tyr519Ter
ENST00000369567.5:c.1053T>A (AP4B1) ENSP00000358580.1:p.Tyr351Ter
ENST00000369569.5:c.1557T>A (AP4B1) ENSP00000358582.1:p.Tyr519Ter
ENST00000462591.1:n.1729T>A (AP4B1)
ENST00000479285.5:n.1004T>A (AP4B1)
NM_001253852.1:c.1557T>A (AP4B1) NP_001240781.1:p.Tyr519Ter
NM_001253852.2:c.1557T>A (AP4B1) NP_001240781.1:p.Tyr519Ter
NM_001253853.1:c.1260T>A (AP4B1) NP_001240782.1:p.Tyr420Ter
NM_001253853.2:c.1260T>A (AP4B1) NP_001240782.1:p.Tyr420Ter
NM_001308312.1:c.1053T>A (AP4B1) NP_001295241.1:p.Tyr351Ter
NM_006594.3:c.1557T>A (AP4B1) NP_006585.2:p.Tyr519Ter
NM_006594.4:c.1557T>A (AP4B1) NP_006585.2:p.Tyr519Ter
NR_037864.1:n.247-1876A>T (AP4B1-AS1)
NR_125965.1:n.415-1876A>T (AP4B1-AS1)
XM_005270381.2:c.1245T>A (AP4B1) XP_005270438.1:p.Tyr415Ter
XM_011540523.1:c.1332T>A (AP4B1) XP_011538825.1:p.Tyr444Ter
XM_011540524.1:c.1332T>A (AP4B1) XP_011538826.1:p.Tyr444Ter
XM_011540525.1:c.1278T>A (AP4B1) XP_011538827.1:p.Tyr426Ter
XM_011540527.1:c.939T>A (AP4B1) XP_011538829.1:p.Tyr313Ter
XM_011540528.1:c.582T>A (AP4B1) XP_011538830.1:p.Tyr194Ter
XR_246227.1:n.1531T>A (AP4B1)
XM_011540523.3:c.1332T>A (AP4B1) XP_011538825.1:p.Tyr444Ter
XM_011540525.3:c.1278T>A (AP4B1) XP_011538827.1:p.Tyr426Ter
XM_017000089.2:c.1245T>A (AP4B1) XP_016855578.1:p.Tyr415Ter
XM_017000090.1:c.1053T>A (AP4B1) XP_016855579.1:p.Tyr351Ter
XM_017000091.2:c.966T>A (AP4B1) XP_016855580.1:p.Tyr322Ter
XM_017000092.2:c.582T>A (AP4B1) XP_016855581.1:p.Tyr194Ter
XM_024452422.1:c.1278T>A (AP4B1) XP_024308190.1:p.Tyr426Ter
XM_024452423.1:c.1245T>A (AP4B1) XP_024308191.1:p.Tyr415Ter
XM_024452435.1:c.1020T>A (AP4B1) XP_024308203.1:p.Tyr340Ter
XM_024452441.1:c.741T>A (AP4B1) XP_024308209.1:p.Tyr247Ter
XR_001736928.2:n.1987T>A (AP4B1)
XR_001736930.2:n.2131T>A (AP4B1)
XR_002958805.1:n.1551T>A (AP4B1)
XR_002958806.1:n.2028T>A (AP4B1)
XR_002958807.1:n.2086T>A (AP4B1)
NM_001253852.3:c.1557T>A (AP4B1) MANE Select NP_001240781.1:p.Tyr519Ter
NM_001253853.3:c.1260T>A (AP4B1) NP_001240782.1:p.Tyr420Ter
NM_001308312.2:c.1053T>A (AP4B1) NP_001295241.1:p.Tyr351Ter
NM_006594.5:c.1557T>A (AP4B1) NP_006585.2:p.Tyr519Ter