Canonical Allele Identifier: CA7558782

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50925143G>A , CM000677.2:g.50925143G>A	GRCh38
NC_000015.9:g.51217340G>A , CM000677.1:g.51217340G>A	GRCh37
NC_000015.8:g.49004632G>A	NCBI36
NG_031875.1:g.21472G>A
NG_031875.2:g.21472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.466G>A MANE Select	ENSP00000261842.5:p.Val156Ile
ENST00000261842.9:c.466G>A	ENSP00000261842.5:p.Val156Ile
ENST00000558439.5:c.466G>A	ENSP00000452712.1:p.Val156Ile
ENST00000560508.1:c.241G>A	ENSP00000452976.1:p.Val81Ile
ENST00000561393.5:c.241G>A	ENSP00000452711.1:p.Val81Ile
ENST00000561441.5:c.466G>A	ENSP00000453112.1:p.Val156Ile
NM_001252127.1:c.241G>A	NP_001239056.1:p.Val81Ile
NM_007347.4:c.466G>A	NP_031373.2:p.Val156Ile
XM_005254264.2:c.241G>A	XP_005254321.1:p.Val81Ile
XM_006720447.2:c.241G>A	XP_006720510.1:p.Val81Ile
XM_011521408.1:c.286G>A	XP_011519710.1:p.Val96Ile
XM_011521409.1:c.-975G>A	XP_011519711.1:n.-975G>A
XM_005254264.4:c.241G>A	XP_005254321.1:p.Val81Ile
XM_006720447.4:c.241G>A	XP_006720510.1:p.Val81Ile
XM_017022042.2:c.-505G>A	XP_016877531.1:n.-505G>A
XR_001751183.1:n.573G>A
XR_001751184.1:n.573G>A
XR_001751185.1:n.573G>A
NM_007347.5:c.466G>A MANE Select	NP_031373.2:p.Val156Ile
NM_001252127.2:c.241G>A	NP_001239056.1:p.Val81Ile