Canonical Allele Identifier: CA490342005

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289582T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997385T>A , CM000677.2:g.50997385T>A	GRCh38
NC_000015.9:g.51289582T>A , CM000677.1:g.51289582T>A	GRCh37
NC_000015.8:g.49076874T>A	NCBI36
NG_031875.1:g.93714T>A
NG_031875.2:g.93714T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2406T>A MANE Select	ENSP00000261842.5:p.Ala802=
ENST00000261842.9:c.2406T>A	ENSP00000261842.5:p.Ala802=
ENST00000558439.5:c.*1530T>A	ENSP00000452712.1:n.*1530T>A
ENST00000560508.1:c.2181T>A	ENSP00000452976.1:p.Ala727=
ENST00000561393.5:c.*1450T>A	ENSP00000452711.1:n.*1450T>A
NM_001252127.1:c.2181T>A	NP_001239056.1:p.Ala727=
NM_007347.4:c.2406T>A	NP_031373.2:p.Ala802=
XM_005254264.2:c.2181T>A	XP_005254321.1:p.Ala727=
XM_006720447.2:c.2181T>A	XP_006720510.1:p.Ala727=
XM_011521408.1:c.2226T>A	XP_011519710.1:p.Ala742=
XM_011521409.1:c.1056T>A	XP_011519711.1:p.Ala352=
XM_005254264.4:c.2181T>A	XP_005254321.1:p.Ala727=
XM_006720447.4:c.2181T>A	XP_006720510.1:p.Ala727=
XM_017022042.2:c.1524T>A	XP_016877531.1:p.Ala508=
XR_001751183.1:n.2513T>A
XR_001751184.1:n.2389T>A
NM_007347.5:c.2406T>A MANE Select	NP_031373.2:p.Ala802=
NM_001252127.2:c.2181T>A	NP_001239056.1:p.Ala727=