Canonical Allele Identifier: CA2176672389
Gene: AP4E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50997215A= , CM000677.2:g.50997215A= GRCh38
NC_000015.9:g.51289412A= , CM000677.1:g.51289412A= GRCh37
NC_000015.8:g.49076704A= NCBI36
NG_031875.1:g.93544A=
NG_031875.2:g.93544A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261842.10:c.2347-111A= MANE Select ENSP00000261842.5:n.2347-111A=
ENST00000261842.9:c.2347-111A= ENSP00000261842.5:n.2347-111A=
ENST00000558439.5:c.*1471-111A= ENSP00000452712.1:n.*1471-111A=
ENST00000560508.1:c.2122-111A= ENSP00000452976.1:n.2122-111A=
ENST00000561393.5:c.*1391-111A= ENSP00000452711.1:n.*1391-111A=
NM_001252127.1:c.2122-111A= NP_001239056.1:n.2122-111A=
NM_007347.4:c.2347-111A= NP_031373.2:n.2347-111A=
XM_005254264.2:c.2122-111A= XP_005254321.1:n.2122-111A=
XM_006720447.2:c.2122-111A= XP_006720510.1:n.2122-111A=
XM_011521408.1:c.2167-111A= XP_011519710.1:n.2167-111A=
XM_011521409.1:c.997-111A= XP_011519711.1:n.997-111A=
XM_005254264.4:c.2122-111A= XP_005254321.1:n.2122-111A=
XM_006720447.4:c.2122-111A= XP_006720510.1:n.2122-111A=
XM_017022042.2:c.1465-111A= XP_016877531.1:n.1465-111A=
XR_001751183.1:n.2454-111A=
XR_001751184.1:n.2330-111A=
NM_007347.5:c.2347-111A= MANE Select NP_031373.2:n.2347-111A=
NM_001252127.2:c.2122-111A= NP_001239056.1:n.2122-111A=