Canonical Allele Identifier: CA2176672576

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997395G= , CM000677.2:g.50997395G=	GRCh38
NC_000015.9:g.51289592G= , CM000677.1:g.51289592G=	GRCh37
NC_000015.8:g.49076884G=	NCBI36
NG_031875.1:g.93724G=
NG_031875.2:g.93724G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2416G= MANE Select	ENSP00000261842.5:p.Glu806=
ENST00000261842.9:c.2416G=	ENSP00000261842.5:p.Glu806=
ENST00000558439.5:c.*1540G=	ENSP00000452712.1:n.*1540G=
ENST00000560508.1:c.2191G=	ENSP00000452976.1:p.Glu731=
ENST00000561393.5:c.*1460G=	ENSP00000452711.1:n.*1460G=
NM_001252127.1:c.2191G=	NP_001239056.1:p.Glu731=
NM_007347.4:c.2416G=	NP_031373.2:p.Glu806=
XM_005254264.2:c.2191G=	XP_005254321.1:p.Glu731=
XM_006720447.2:c.2191G=	XP_006720510.1:p.Glu731=
XM_011521408.1:c.2236G=	XP_011519710.1:p.Glu746=
XM_011521409.1:c.1066G=	XP_011519711.1:p.Glu356=
XM_005254264.4:c.2191G=	XP_005254321.1:p.Glu731=
XM_006720447.4:c.2191G=	XP_006720510.1:p.Glu731=
XM_017022042.2:c.1534G=	XP_016877531.1:p.Glu512=
XR_001751183.1:n.2523G=
XR_001751184.1:n.2399G=
NM_007347.5:c.2416G= MANE Select	NP_031373.2:p.Glu806=
NM_001252127.2:c.2191G=	NP_001239056.1:p.Glu731=