Canonical Allele Identifier: CA351375
Gene: AP4E1 HGNC NCBI

Linked Data

dbSNP Id: rs556450190

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50997380G>A , CM000677.2:g.50997380G>A GRCh38
NC_000015.9:g.51289577G>A , CM000677.1:g.51289577G>A GRCh37
NC_000015.8:g.49076869G>A NCBI36
NG_031875.1:g.93709G>A
NG_031875.2:g.93709G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261842.10:c.2401G>A MANE Select ENSP00000261842.5:p.Glu801Lys
ENST00000261842.9:c.2401G>A ENSP00000261842.5:p.Glu801Lys
ENST00000558439.5:c.*1525G>A ENSP00000452712.1:p.=
ENST00000560508.1:c.2176G>A ENSP00000452976.1:p.Glu726Lys
ENST00000561393.5:c.*1445G>A ENSP00000452711.1:p.=
NM_001252127.1:c.2176G>A NP_001239056.1:p.Glu726Lys
NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys
XM_005254264.2:c.2176G>A XP_005254321.1:p.Glu726Lys
XM_006720447.2:c.2176G>A XP_006720510.1:p.Glu726Lys
XM_011521408.1:c.2221G>A XP_011519710.1:p.Glu741Lys
XM_011521409.1:c.1051G>A XP_011519711.1:p.Glu351Lys
XM_005254264.4:c.2176G>A XP_005254321.1:p.Glu726Lys
XM_006720447.4:c.2176G>A XP_006720510.1:p.Glu726Lys
XM_017022042.2:c.1519G>A XP_016877531.1:p.Glu507Lys
XR_001751183.1:n.2508G>A
XR_001751184.1:n.2384G>A
NM_007347.5:c.2401G>A MANE Select NP_031373.2:p.Glu801Lys
NM_001252127.2:c.2176G>A NP_001239056.1:p.Glu726Lys