Canonical Allele Identifier: CA2176636434
Community Standard Title: NM_007347.5(AP4E1):c.543-134A=
Gene: AP4E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50928875A= , CM000677.2:g.50928875A= GRCh38
NC_000015.9:g.51221072A= , CM000677.1:g.51221072A= GRCh37
NC_000015.8:g.49008364A= NCBI36
NG_031875.1:g.25204A=
NG_031875.2:g.25204A=

Transcript Alleles

HGVS Amino-acid Change
NM_007347.5:c.543-134A= MANE Select NP_031373.2:n.543-134A=
ENST00000261842.10:c.543-134A= MANE Select ENSP00000261842.5:n.543-134A=
NM_001252127.1:c.318-134A= NP_001239056.1:n.318-134A=
NM_001252127.2:c.318-134A= NP_001239056.1:n.318-134A=
NM_007347.4:c.543-134A= NP_031373.2:n.543-134A=
ENST00000261842.9:c.543-134A= ENSP00000261842.5:n.543-134A=
ENST00000558439.5:c.543-134A= ENSP00000452712.1:n.543-134A=
ENST00000560508.1:c.318-134A= ENSP00000452976.1:n.318-134A=
ENST00000561393.5:c.318-134A= ENSP00000452711.1:n.318-134A=
ENST00000561441.5:c.543-134A= ENSP00000453112.1:n.543-134A=
XM_005254264.2:c.318-134A= XP_005254321.1:n.318-134A=
XM_005254264.4:c.318-134A= XP_005254321.1:n.318-134A=
XM_006720447.2:c.318-134A= XP_006720510.1:n.318-134A=
XM_006720447.4:c.318-134A= XP_006720510.1:n.318-134A=
XM_011521408.1:c.363-134A= XP_011519710.1:n.363-134A=
XM_011521409.1:c.-898-134A= XP_011519711.1:n.-898-134A=
XM_017022042.2:c.-428-134A= XP_016877531.1:n.-428-134A=
XR_001751183.1:n.650-134A=
XR_001751184.1:n.650-134A=
XR_001751185.1:n.650-134A=