Canonical Allele Identifier: CA341713837
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113900318A>G , CM000663.2:g.113900318A>G GRCh38
NC_000001.10:g.114442940A>G , CM000663.1:g.114442940A>G GRCh37
NC_000001.9:g.114244463A>G NCBI36
NG_031901.1:g.9802T>C
NG_057565.1:g.700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.475T>C (AP4B1) ENSP00000358577.2:p.Phe159Leu
ENST00000369567.6:c.196T>C (AP4B1) ENSP00000358580.1:p.Phe66Leu
ENST00000369571.3:c.700T>C (AP4B1) ENSP00000358584.3:p.Phe234Leu
ENST00000432415.6:c.196T>C (AP4B1) ENSP00000393622.2:p.Phe66Leu
ENST00000460653.2:c.700T>C (AP4B1) ENSP00000518881.1:p.Phe234Leu
ENST00000484201.6:c.475T>C (AP4B1) ENSP00000518883.1:p.Phe159Leu
ENST00000489092.6:c.*368T>C (AP4B1) ENSP00000518884.1:n.*368T>C
ENST00000489499.6:c.*42T>C (AP4B1) ENSP00000518882.1:n.*42T>C
ENST00000713588.1:c.700T>C (AP4B1) ENSP00000518880.1:p.Phe234Leu
ENST00000713590.1:c.700T>C (AP4B1) ENSP00000518886.1:p.Phe234Leu
ENST00000369569.6:c.700T>C (AP4B1) MANE Select ENSP00000358582.1:p.Phe234Leu
ENST00000256658.8:c.700T>C (AP4B1) ENSP00000256658.4:p.Phe234Leu
ENST00000369564.5:c.475T>C (AP4B1) ENSP00000358577.1:p.Phe159Leu
ENST00000369567.5:c.196T>C (AP4B1) ENSP00000358580.1:p.Phe66Leu
ENST00000369569.5:c.700T>C (AP4B1) ENSP00000358582.1:p.Phe234Leu
ENST00000369571.2:c.700T>C (AP4B1) ENSP00000358584.2:p.Phe234Leu
ENST00000432415.5:c.196T>C (AP4B1) ENSP00000393622.1:p.Phe66Leu
ENST00000484201.5:n.666T>C (AP4B1)
ENST00000489092.5:n.699T>C (AP4B1)
ENST00000489499.5:n.668T>C (AP4B1)
NM_001253852.1:c.700T>C (AP4B1) NP_001240781.1:p.Phe234Leu
NM_001253852.2:c.700T>C (AP4B1) NP_001240781.1:p.Phe234Leu
NM_001253853.1:c.403T>C (AP4B1) NP_001240782.1:p.Phe135Leu
NM_001253853.2:c.403T>C (AP4B1) NP_001240782.1:p.Phe135Leu
NM_001308312.1:c.196T>C (AP4B1) NP_001295241.1:p.Phe66Leu
NM_006594.3:c.700T>C (AP4B1) NP_006585.2:p.Phe234Leu
NM_006594.4:c.700T>C (AP4B1) NP_006585.2:p.Phe234Leu
NR_037864.1:n.815A>G (AP4B1-AS1)
NR_125965.1:n.983A>G (AP4B1-AS1)
XM_005270381.2:c.700T>C (AP4B1) XP_005270438.1:p.Phe234Leu
XM_005270382.3:c.700T>C (AP4B1) XP_005270439.1:p.Phe234Leu
XM_011540523.1:c.475T>C (AP4B1) XP_011538825.1:p.Phe159Leu
XM_011540524.1:c.475T>C (AP4B1) XP_011538826.1:p.Phe159Leu
XM_011540525.1:c.421T>C (AP4B1) XP_011538827.1:p.Phe141Leu
XM_011540527.1:c.82T>C (AP4B1) XP_011538829.1:p.Phe28Leu
XR_246227.1:n.882T>C (AP4B1)
XR_246228.2:n.882T>C (AP4B1)
XM_011540523.3:c.475T>C (AP4B1) XP_011538825.1:p.Phe159Leu
XM_011540525.3:c.421T>C (AP4B1) XP_011538827.1:p.Phe141Leu
XM_017000089.2:c.700T>C (AP4B1) XP_016855578.1:p.Phe234Leu
XM_017000090.1:c.196T>C (AP4B1) XP_016855579.1:p.Phe66Leu
XM_017000091.2:c.421T>C (AP4B1) XP_016855580.1:p.Phe141Leu
XM_017000092.2:c.-545T>C (AP4B1) XP_016855581.1:n.-545T>C
XM_017000093.2:c.700T>C (AP4B1) XP_016855582.1:p.Phe234Leu
XM_024452422.1:c.421T>C (AP4B1) XP_024308190.1:p.Phe141Leu
XM_024452423.1:c.700T>C (AP4B1) XP_024308191.1:p.Phe234Leu
XM_024452435.1:c.475T>C (AP4B1) XP_024308203.1:p.Phe159Leu
XM_024452441.1:c.196T>C (AP4B1) XP_024308209.1:p.Phe66Leu
XR_001736928.2:n.902T>C (AP4B1)
XR_001736930.2:n.902T>C (AP4B1)
XR_002958805.1:n.902T>C (AP4B1)
XR_002958806.1:n.902T>C (AP4B1)
XR_002958807.1:n.782T>C (AP4B1)
NM_001253852.3:c.700T>C (AP4B1) MANE Select NP_001240781.1:p.Phe234Leu
NM_001253853.3:c.403T>C (AP4B1) NP_001240782.1:p.Phe135Leu
NM_001308312.2:c.196T>C (AP4B1) NP_001295241.1:p.Phe66Leu
NM_006594.5:c.700T>C (AP4B1) NP_006585.2:p.Phe234Leu