Canonical Allele Identifier: CA2176672551

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997382A= , CM000677.2:g.50997382A=	GRCh38
NC_000015.9:g.51289579A= , CM000677.1:g.51289579A=	GRCh37
NC_000015.8:g.49076871A=	NCBI36
NG_031875.1:g.93711A=
NG_031875.2:g.93711A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2403A= MANE Select	ENSP00000261842.5:p.Glu801=
ENST00000261842.9:c.2403A=	ENSP00000261842.5:p.Glu801=
ENST00000558439.5:c.*1527A=	ENSP00000452712.1:n.*1527A=
ENST00000560508.1:c.2178A=	ENSP00000452976.1:p.Glu726=
ENST00000561393.5:c.*1447A=	ENSP00000452711.1:n.*1447A=
NM_001252127.1:c.2178A=	NP_001239056.1:p.Glu726=
NM_007347.4:c.2403A=	NP_031373.2:p.Glu801=
XM_005254264.2:c.2178A=	XP_005254321.1:p.Glu726=
XM_006720447.2:c.2178A=	XP_006720510.1:p.Glu726=
XM_011521408.1:c.2223A=	XP_011519710.1:p.Glu741=
XM_011521409.1:c.1053A=	XP_011519711.1:p.Glu351=
XM_005254264.4:c.2178A=	XP_005254321.1:p.Glu726=
XM_006720447.4:c.2178A=	XP_006720510.1:p.Glu726=
XM_017022042.2:c.1521A=	XP_016877531.1:p.Glu507=
XR_001751183.1:n.2510A=
XR_001751184.1:n.2386A=
NM_007347.5:c.2403A= MANE Select	NP_031373.2:p.Glu801=
NM_001252127.2:c.2178A=	NP_001239056.1:p.Glu726=