Canonical Allele Identifier: CA392420772

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997783G>A , CM000677.2:g.50997783G>A	GRCh38
NC_000015.9:g.51289980G>A , CM000677.1:g.51289980G>A	GRCh37
NC_000015.8:g.49077272G>A	NCBI36
NG_031875.1:g.94112G>A
NG_031875.2:g.94112G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.2804G>A MANE Select	NP_031373.2:p.Trp935Ter
ENST00000261842.10:c.2804G>A MANE Select	ENSP00000261842.5:p.Trp935Ter
NM_001252127.1:c.2579G>A	NP_001239056.1:p.Trp860Ter
NM_001252127.2:c.2579G>A	NP_001239056.1:p.Trp860Ter
NM_007347.4:c.2804G>A	NP_031373.2:p.Trp935Ter
ENST00000261842.9:c.2804G>A	ENSP00000261842.5:p.Trp935Ter
ENST00000558439.5:c.*1928G>A	ENSP00000452712.1:n.*1928G>A
ENST00000560508.1:c.2579G>A	ENSP00000452976.1:p.Trp860Ter
ENST00000561393.5:c.*1848G>A	ENSP00000452711.1:n.*1848G>A
ENST00000561397.1:n.35G>A
XM_005254264.2:c.2579G>A	XP_005254321.1:p.Trp860Ter
XM_005254264.4:c.2579G>A	XP_005254321.1:p.Trp860Ter
XM_006720447.2:c.2579G>A	XP_006720510.1:p.Trp860Ter
XM_006720447.4:c.2579G>A	XP_006720510.1:p.Trp860Ter
XM_011521408.1:c.2624G>A	XP_011519710.1:p.Trp875Ter
XM_011521409.1:c.1454G>A	XP_011519711.1:p.Trp485Ter
XM_017022042.2:c.1922G>A	XP_016877531.1:p.Trp641Ter
XR_001751183.1:n.2911G>A
XR_001751184.1:n.2787G>A