Canonical Allele Identifier: CA2176672568

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997394C= , CM000677.2:g.50997394C=	GRCh38
NC_000015.9:g.51289591C= , CM000677.1:g.51289591C=	GRCh37
NC_000015.8:g.49076883C=	NCBI36
NG_031875.1:g.93723C=
NG_031875.2:g.93723C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2415C= MANE Select	ENSP00000261842.5:p.Gly805=
ENST00000261842.9:c.2415C=	ENSP00000261842.5:p.Gly805=
ENST00000558439.5:c.*1539C=	ENSP00000452712.1:n.*1539C=
ENST00000560508.1:c.2190C=	ENSP00000452976.1:p.Gly730=
ENST00000561393.5:c.*1459C=	ENSP00000452711.1:n.*1459C=
NM_001252127.1:c.2190C=	NP_001239056.1:p.Gly730=
NM_007347.4:c.2415C=	NP_031373.2:p.Gly805=
XM_005254264.2:c.2190C=	XP_005254321.1:p.Gly730=
XM_006720447.2:c.2190C=	XP_006720510.1:p.Gly730=
XM_011521408.1:c.2235C=	XP_011519710.1:p.Gly745=
XM_011521409.1:c.1065C=	XP_011519711.1:p.Gly355=
XM_005254264.4:c.2190C=	XP_005254321.1:p.Gly730=
XM_006720447.4:c.2190C=	XP_006720510.1:p.Gly730=
XM_017022042.2:c.1533C=	XP_016877531.1:p.Gly511=
XR_001751183.1:n.2522C=
XR_001751184.1:n.2398C=
NM_007347.5:c.2415C= MANE Select	NP_031373.2:p.Gly805=
NM_001252127.2:c.2190C=	NP_001239056.1:p.Gly730=