Canonical Allele Identifier: CA7558706

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50915475C>A , CM000677.2:g.50915475C>A	GRCh38
NC_000015.9:g.51207672C>A , CM000677.1:g.51207672C>A	GRCh37
NC_000015.8:g.48994964C>A	NCBI36
NG_031875.1:g.11804C>A
NG_031875.2:g.11804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.250C>A MANE Select	ENSP00000261842.5:p.Leu84Ile
ENST00000261842.9:c.250C>A	ENSP00000261842.5:p.Leu84Ile
ENST00000558439.5:c.250C>A	ENSP00000452712.1:p.Leu84Ile
ENST00000560508.1:c.25C>A	ENSP00000452976.1:p.Leu9Ile
ENST00000561393.5:c.25C>A	ENSP00000452711.1:p.Leu9Ile
ENST00000561441.5:c.250C>A	ENSP00000453112.1:p.Leu84Ile
NM_001252127.1:c.25C>A	NP_001239056.1:p.Leu9Ile
NM_007347.4:c.250C>A	NP_031373.2:p.Leu84Ile
XM_005254264.2:c.25C>A	XP_005254321.1:p.Leu9Ile
XM_006720447.2:c.25C>A	XP_006720510.1:p.Leu9Ile
XM_011521408.1:c.70C>A	XP_011519710.1:p.Leu24Ile
XM_011521409.1:c.-1191C>A	XP_011519711.1:n.-1191C>A
XM_005254264.4:c.25C>A	XP_005254321.1:p.Leu9Ile
XM_006720447.4:c.25C>A	XP_006720510.1:p.Leu9Ile
XM_017022042.2:c.-721C>A	XP_016877531.1:n.-721C>A
XR_001751183.1:n.357C>A
XR_001751184.1:n.357C>A
XR_001751185.1:n.357C>A
NM_007347.5:c.250C>A MANE Select	NP_031373.2:p.Leu84Ile
NM_001252127.2:c.25C>A	NP_001239056.1:p.Leu9Ile