Canonical Allele Identifier: CA351377
Gene: AP4E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50958492G>A , CM000677.2:g.50958492G>A GRCh38
NC_000015.9:g.51250689G>A , CM000677.1:g.51250689G>A GRCh37
NC_000015.8:g.49037981G>A NCBI36
NG_031875.1:g.54821G>A
NG_031875.2:g.54821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261842.10:c.1549G>A MANE Select ENSP00000261842.5:p.Val517Ile
ENST00000261842.9:c.1549G>A ENSP00000261842.5:p.Val517Ile
ENST00000558439.5:c.*673G>A ENSP00000452712.1:n.*673G>A
ENST00000560508.1:c.1324G>A ENSP00000452976.1:p.Val442Ile
ENST00000561393.5:c.*593G>A ENSP00000452711.1:n.*593G>A
NM_001252127.1:c.1324G>A NP_001239056.1:p.Val442Ile
NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile
XM_005254264.2:c.1324G>A XP_005254321.1:p.Val442Ile
XM_006720447.2:c.1324G>A XP_006720510.1:p.Val442Ile
XM_011521408.1:c.1369G>A XP_011519710.1:p.Val457Ile
XM_011521409.1:c.199G>A XP_011519711.1:p.Val67Ile
XM_005254264.4:c.1324G>A XP_005254321.1:p.Val442Ile
XM_006720447.4:c.1324G>A XP_006720510.1:p.Val442Ile
XM_017022042.2:c.667G>A XP_016877531.1:p.Val223Ile
XR_001751183.1:n.1656G>A
XR_001751184.1:n.1656G>A
XR_001751185.1:n.1658G>A
NM_007347.5:c.1549G>A MANE Select NP_031373.2:p.Val517Ile
NM_001252127.2:c.1324G>A NP_001239056.1:p.Val442Ile