Canonical Allele Identifier: CA341708045
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895462C>T , CM000663.2:g.113895462C>T GRCh38
NC_000001.10:g.114438084C>T , CM000663.1:g.114438084C>T GRCh37
NC_000001.9:g.114239607C>T NCBI36
NG_031901.1:g.14658G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.1823G>A (AP4B1) MANE Select NP_001240781.1:p.Arg608Lys
ENST00000369569.6:c.1823G>A (AP4B1) MANE Select ENSP00000358582.1:p.Arg608Lys
NM_001253852.1:c.1823G>A (AP4B1) NP_001240781.1:p.Arg608Lys
NM_001253852.2:c.1823G>A (AP4B1) NP_001240781.1:p.Arg608Lys
NM_001253853.1:c.1526G>A (AP4B1) NP_001240782.1:p.Arg509Lys
NM_001253853.2:c.1526G>A (AP4B1) NP_001240782.1:p.Arg509Lys
NM_001253853.3:c.1526G>A (AP4B1) NP_001240782.1:p.Arg509Lys
NM_001308312.1:c.1319G>A (AP4B1) NP_001295241.1:p.Arg440Lys
NM_001308312.2:c.1319G>A (AP4B1) NP_001295241.1:p.Arg440Lys
NM_006594.3:c.1823G>A (AP4B1) NP_006585.2:p.Arg608Lys
NM_006594.4:c.1823G>A (AP4B1) NP_006585.2:p.Arg608Lys
NM_006594.5:c.1823G>A (AP4B1) NP_006585.2:p.Arg608Lys
NR_037864.1:n.247-2406C>T (AP4B1-AS1)
NR_125965.1:n.415-2406C>T (AP4B1-AS1)
ENST00000256658.8:c.1823G>A (AP4B1) ENSP00000256658.4:p.Arg608Lys
ENST00000369564.6:c.1598G>A (AP4B1) ENSP00000358577.2:p.Arg533Lys
ENST00000369567.5:c.1319G>A (AP4B1) ENSP00000358580.1:p.Arg440Lys
ENST00000369567.6:c.1319G>A (AP4B1) ENSP00000358580.1:p.Arg440Lys
ENST00000369569.5:c.1823G>A (AP4B1) ENSP00000358582.1:p.Arg608Lys
ENST00000369571.3:c.1823G>A (AP4B1) ENSP00000358584.3:p.Arg608Lys
ENST00000432415.6:c.1319G>A (AP4B1) ENSP00000393622.2:p.Arg440Lys
ENST00000460653.2:c.*893G>A (AP4B1) ENSP00000518881.1:n.*893G>A
ENST00000462591.1:n.2259G>A (AP4B1)
ENST00000479285.5:n.1534G>A (AP4B1)
ENST00000484201.6:c.*573G>A (AP4B1) ENSP00000518883.1:n.*573G>A
ENST00000489499.6:c.*1165G>A (AP4B1) ENSP00000518882.1:n.*1165G>A
ENST00000713588.1:c.*934G>A (AP4B1) ENSP00000518880.1:n.*934G>A
ENST00000713590.1:c.1823G>A (AP4B1) ENSP00000518886.1:p.Arg608Lys
XM_005270381.2:c.1511G>A (AP4B1) XP_005270438.1:p.Arg504Lys
XM_011540523.1:c.1598G>A (AP4B1) XP_011538825.1:p.Arg533Lys
XM_011540523.3:c.1598G>A (AP4B1) XP_011538825.1:p.Arg533Lys
XM_011540524.1:c.1598G>A (AP4B1) XP_011538826.1:p.Arg533Lys
XM_011540525.1:c.1544G>A (AP4B1) XP_011538827.1:p.Arg515Lys
XM_011540525.3:c.1544G>A (AP4B1) XP_011538827.1:p.Arg515Lys
XM_011540527.1:c.1205G>A (AP4B1) XP_011538829.1:p.Arg402Lys
XM_011540528.1:c.848G>A (AP4B1) XP_011538830.1:p.Arg283Lys
XM_017000089.2:c.1511G>A (AP4B1) XP_016855578.1:p.Arg504Lys
XM_017000090.1:c.1319G>A (AP4B1) XP_016855579.1:p.Arg440Lys
XM_017000091.2:c.1232G>A (AP4B1) XP_016855580.1:p.Arg411Lys
XM_017000092.2:c.848G>A (AP4B1) XP_016855581.1:p.Arg283Lys
XM_024452422.1:c.1544G>A (AP4B1) XP_024308190.1:p.Arg515Lys
XM_024452423.1:c.1511G>A (AP4B1) XP_024308191.1:p.Arg504Lys
XM_024452435.1:c.1286G>A (AP4B1) XP_024308203.1:p.Arg429Lys
XM_024452441.1:c.1007G>A (AP4B1) XP_024308209.1:p.Arg336Lys
XR_001736928.2:n.2253G>A (AP4B1)
XR_001736930.2:n.2397G>A (AP4B1)
XR_002958805.1:n.1817G>A (AP4B1)
XR_002958806.1:n.2294G>A (AP4B1)
XR_002958807.1:n.2352G>A (AP4B1)
XR_246227.1:n.1797G>A (AP4B1)