Canonical Allele Identifier: CA1189947479

Gene: AP4B1 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113899965C= , CM000663.2:g.113899965C=	GRCh38
NC_000001.10:g.114442587C= , CM000663.1:g.114442587C=	GRCh37
NC_000001.9:g.114244110C=	NCBI36
NG_031901.1:g.10155G=
NG_057565.1:g.347C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.828G= (AP4B1)	ENSP00000358577.2:p.Glu276=
ENST00000369567.6:c.549G= (AP4B1)	ENSP00000358580.1:p.Glu183=
ENST00000369571.3:c.1053G= (AP4B1)	ENSP00000358584.3:p.Glu351=
ENST00000432415.6:c.549G= (AP4B1)	ENSP00000393622.2:p.Glu183=
ENST00000460653.2:c.1053G= (AP4B1)	ENSP00000518881.1:p.Glu351=
ENST00000484201.6:c.523+305G= (AP4B1)	ENSP00000518883.1:n.523+305G=
ENST00000489499.6:c.*395G= (AP4B1)	ENSP00000518882.1:n.*395G=
ENST00000713588.1:c.1053G= (AP4B1)	ENSP00000518880.1:p.Glu351=
ENST00000713590.1:c.1053G= (AP4B1)	ENSP00000518886.1:p.Glu351=
ENST00000369569.6:c.1053G= (AP4B1) MANE Select	ENSP00000358582.1:p.Glu351=
ENST00000256658.8:c.1053G= (AP4B1)	ENSP00000256658.4:p.Glu351=
ENST00000369564.5:c.828G= (AP4B1)	ENSP00000358577.1:p.Glu276=
ENST00000369567.5:c.549G= (AP4B1)	ENSP00000358580.1:p.Glu183=
ENST00000369569.5:c.1053G= (AP4B1)	ENSP00000358582.1:p.Glu351=
ENST00000460653.1:n.44G= (AP4B1)
ENST00000479285.5:n.281G= (AP4B1)
ENST00000484201.5:n.714+305G= (AP4B1)
ENST00000489499.5:n.1021G= (AP4B1)
NM_001253852.1:c.1053G= (AP4B1)	NP_001240781.1:p.Glu351=
NM_001253852.2:c.1053G= (AP4B1)	NP_001240781.1:p.Glu351=
NM_001253853.1:c.756G= (AP4B1)	NP_001240782.1:p.Glu252=
NM_001253853.2:c.756G= (AP4B1)	NP_001240782.1:p.Glu252=
NM_001308312.1:c.549G= (AP4B1)	NP_001295241.1:p.Glu183=
NM_006594.3:c.1053G= (AP4B1)	NP_006585.2:p.Glu351=
NM_006594.4:c.1053G= (AP4B1)	NP_006585.2:p.Glu351=
NR_037864.1:n.462C= (AP4B1-AS1)
NR_125965.1:n.630C= (AP4B1-AS1)
XM_005270381.2:c.1053G= (AP4B1)	XP_005270438.1:p.Glu351=
XM_005270382.3:c.1053G= (AP4B1)	XP_005270439.1:p.Glu351=
XM_011540523.1:c.828G= (AP4B1)	XP_011538825.1:p.Glu276=
XM_011540524.1:c.828G= (AP4B1)	XP_011538826.1:p.Glu276=
XM_011540525.1:c.774G= (AP4B1)	XP_011538827.1:p.Glu258=
XM_011540527.1:c.435G= (AP4B1)	XP_011538829.1:p.Glu145=
XM_011540528.1:c.-192G= (AP4B1)	XP_011538830.1:n.-192G=
XR_246227.1:n.1235G= (AP4B1)
XR_246228.2:n.1235G= (AP4B1)
XM_011540523.3:c.828G= (AP4B1)	XP_011538825.1:p.Glu276=
XM_011540525.3:c.774G= (AP4B1)	XP_011538827.1:p.Glu258=
XM_017000089.2:c.1053G= (AP4B1)	XP_016855578.1:p.Glu351=
XM_017000090.1:c.549G= (AP4B1)	XP_016855579.1:p.Glu183=
XM_017000091.2:c.774G= (AP4B1)	XP_016855580.1:p.Glu258=
XM_017000092.2:c.-192G= (AP4B1)	XP_016855581.1:n.-192G=
XM_017000093.2:c.1053G= (AP4B1)	XP_016855582.1:p.Glu351=
XM_024452422.1:c.774G= (AP4B1)	XP_024308190.1:p.Glu258=
XM_024452423.1:c.1053G= (AP4B1)	XP_024308191.1:p.Glu351=
XM_024452435.1:c.828G= (AP4B1)	XP_024308203.1:p.Glu276=
XM_024452441.1:c.549G= (AP4B1)	XP_024308209.1:p.Glu183=
XR_001736928.2:n.1255G= (AP4B1)
XR_001736930.2:n.1255G= (AP4B1)
XR_002958805.1:n.1255G= (AP4B1)
XR_002958806.1:n.1255G= (AP4B1)
XR_002958807.1:n.1135G= (AP4B1)
NM_001253852.3:c.1053G= (AP4B1) MANE Select	NP_001240781.1:p.Glu351=
NM_001253853.3:c.756G= (AP4B1)	NP_001240782.1:p.Glu252=
NM_001308312.2:c.549G= (AP4B1)	NP_001295241.1:p.Glu183=
NM_006594.5:c.1053G= (AP4B1)	NP_006585.2:p.Glu351=