Canonical Allele Identifier: CA490341962

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997331-A-T
• MyVariant Identifiers: chr15:g.51289528A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997331A>T , CM000677.2:g.50997331A>T	GRCh38
NC_000015.9:g.51289528A>T , CM000677.1:g.51289528A>T	GRCh37
NC_000015.8:g.49076820A>T	NCBI36
NG_031875.1:g.93660A>T
NG_031875.2:g.93660A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2352A>T MANE Select	ENSP00000261842.5:p.Gly784=
ENST00000261842.9:c.2352A>T	ENSP00000261842.5:p.Gly784=
ENST00000558439.5:c.*1476A>T	ENSP00000452712.1:n.*1476A>T
ENST00000560508.1:c.2127A>T	ENSP00000452976.1:p.Gly709=
ENST00000561393.5:c.*1396A>T	ENSP00000452711.1:n.*1396A>T
NM_001252127.1:c.2127A>T	NP_001239056.1:p.Gly709=
NM_007347.4:c.2352A>T	NP_031373.2:p.Gly784=
XM_005254264.2:c.2127A>T	XP_005254321.1:p.Gly709=
XM_006720447.2:c.2127A>T	XP_006720510.1:p.Gly709=
XM_011521408.1:c.2172A>T	XP_011519710.1:p.Gly724=
XM_011521409.1:c.1002A>T	XP_011519711.1:p.Gly334=
XM_005254264.4:c.2127A>T	XP_005254321.1:p.Gly709=
XM_006720447.4:c.2127A>T	XP_006720510.1:p.Gly709=
XM_017022042.2:c.1470A>T	XP_016877531.1:p.Gly490=
XR_001751183.1:n.2459A>T
XR_001751184.1:n.2335A>T
NM_007347.5:c.2352A>T MANE Select	NP_031373.2:p.Gly784=
NM_001252127.2:c.2127A>T	NP_001239056.1:p.Gly709=