Canonical Allele Identifier: CA1015653
Community Standard Title: NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln)
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895255C>T , CM000663.2:g.113895255C>T GRCh38
NC_000001.10:g.114437877C>T , CM000663.1:g.114437877C>T GRCh37
NC_000001.9:g.114239400C>T NCBI36
NG_031901.1:g.14865G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.2030G>A (AP4B1) MANE Select NP_001240781.1:p.Arg677Gln
ENST00000369569.6:c.2030G>A (AP4B1) MANE Select ENSP00000358582.1:p.Arg677Gln
NM_001253852.1:c.2030G>A (AP4B1) NP_001240781.1:p.Arg677Gln
NM_001253852.2:c.2030G>A (AP4B1) NP_001240781.1:p.Arg677Gln
NM_001253853.1:c.1733G>A (AP4B1) NP_001240782.1:p.Arg578Gln
NM_001253853.2:c.1733G>A (AP4B1) NP_001240782.1:p.Arg578Gln
NM_001253853.3:c.1733G>A (AP4B1) NP_001240782.1:p.Arg578Gln
NM_001308312.1:c.1526G>A (AP4B1) NP_001295241.1:p.Arg509Gln
NM_001308312.2:c.1526G>A (AP4B1) NP_001295241.1:p.Arg509Gln
NM_006594.3:c.2030G>A (AP4B1) NP_006585.2:p.Arg677Gln
NM_006594.4:c.2030G>A (AP4B1) NP_006585.2:p.Arg677Gln
NM_006594.5:c.2030G>A (AP4B1) NP_006585.2:p.Arg677Gln
NR_037864.1:n.247-2613C>T (AP4B1-AS1)
NR_125965.1:n.415-2613C>T (AP4B1-AS1)
ENST00000256658.8:c.2030G>A (AP4B1) ENSP00000256658.4:p.Arg677Gln
ENST00000369564.6:c.1805G>A (AP4B1) ENSP00000358577.2:p.Arg602Gln
ENST00000369567.5:c.1526G>A (AP4B1) ENSP00000358580.1:p.Arg509Gln
ENST00000369567.6:c.1526G>A (AP4B1) ENSP00000358580.1:p.Arg509Gln
ENST00000369569.5:c.2030G>A (AP4B1) ENSP00000358582.1:p.Arg677Gln
ENST00000369571.3:c.2030G>A (AP4B1) ENSP00000358584.3:p.Arg677Gln
ENST00000432415.6:c.1526G>A (AP4B1) ENSP00000393622.2:p.Arg509Gln
ENST00000460653.2:c.*1100G>A (AP4B1) ENSP00000518881.1:n.*1100G>A
ENST00000462591.1:n.2466G>A (AP4B1)
ENST00000479285.5:n.1741G>A (AP4B1)
ENST00000484201.6:c.*780G>A (AP4B1) ENSP00000518883.1:n.*780G>A
ENST00000489499.6:c.*1372G>A (AP4B1) ENSP00000518882.1:n.*1372G>A
ENST00000713588.1:c.*1141G>A (AP4B1) ENSP00000518880.1:n.*1141G>A
ENST00000713590.1:c.2030G>A (AP4B1) ENSP00000518886.1:p.Arg677Gln
XM_005270381.2:c.1718G>A (AP4B1) XP_005270438.1:p.Arg573Gln
XM_011540523.1:c.1805G>A (AP4B1) XP_011538825.1:p.Arg602Gln
XM_011540523.3:c.1805G>A (AP4B1) XP_011538825.1:p.Arg602Gln
XM_011540524.1:c.1805G>A (AP4B1) XP_011538826.1:p.Arg602Gln
XM_011540525.1:c.1751G>A (AP4B1) XP_011538827.1:p.Arg584Gln
XM_011540525.3:c.1751G>A (AP4B1) XP_011538827.1:p.Arg584Gln
XM_011540527.1:c.1412G>A (AP4B1) XP_011538829.1:p.Arg471Gln
XM_011540528.1:c.1055G>A (AP4B1) XP_011538830.1:p.Arg352Gln
XM_017000089.2:c.1718G>A (AP4B1) XP_016855578.1:p.Arg573Gln
XM_017000090.1:c.1526G>A (AP4B1) XP_016855579.1:p.Arg509Gln
XM_017000091.2:c.1439G>A (AP4B1) XP_016855580.1:p.Arg480Gln
XM_017000092.2:c.1055G>A (AP4B1) XP_016855581.1:p.Arg352Gln
XM_024452422.1:c.1751G>A (AP4B1) XP_024308190.1:p.Arg584Gln
XM_024452423.1:c.1718G>A (AP4B1) XP_024308191.1:p.Arg573Gln
XM_024452435.1:c.1493G>A (AP4B1) XP_024308203.1:p.Arg498Gln
XM_024452441.1:c.1214G>A (AP4B1) XP_024308209.1:p.Arg405Gln
XR_001736928.2:n.2460G>A (AP4B1)
XR_001736930.2:n.2604G>A (AP4B1)
XR_002958805.1:n.2024G>A (AP4B1)
XR_002958806.1:n.2501G>A (AP4B1)
XR_002958807.1:n.2559G>A (AP4B1)
XR_246227.1:n.2004G>A (AP4B1)