Canonical Allele Identifier: CA7558746

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50923974A>G , CM000677.2:g.50923974A>G	GRCh38
NC_000015.9:g.51216171A>G , CM000677.1:g.51216171A>G	GRCh37
NC_000015.8:g.49003463A>G	NCBI36
NG_031875.1:g.20303A>G
NG_031875.2:g.20303A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.390A>G MANE Select	NP_031373.2:p.Leu130=
ENST00000261842.10:c.390A>G MANE Select	ENSP00000261842.5:p.Leu130=
NM_001252127.1:c.165A>G	NP_001239056.1:p.Leu55=
NM_001252127.2:c.165A>G	NP_001239056.1:p.Leu55=
NM_007347.4:c.390A>G	NP_031373.2:p.Leu130=
ENST00000261842.9:c.390A>G	ENSP00000261842.5:p.Leu130=
ENST00000558439.5:c.390A>G	ENSP00000452712.1:p.Leu130=
ENST00000560508.1:c.165A>G	ENSP00000452976.1:p.Leu55=
ENST00000561393.5:c.165A>G	ENSP00000452711.1:p.Leu55=
ENST00000561441.5:c.390A>G	ENSP00000453112.1:p.Leu130=
XM_005254264.2:c.165A>G	XP_005254321.1:p.Leu55=
XM_005254264.4:c.165A>G	XP_005254321.1:p.Leu55=
XM_006720447.2:c.165A>G	XP_006720510.1:p.Leu55=
XM_006720447.4:c.165A>G	XP_006720510.1:p.Leu55=
XM_011521408.1:c.210A>G	XP_011519710.1:p.Leu70=
XM_011521409.1:c.-1051A>G	XP_011519711.1:n.-1051A>G
XM_017022042.2:c.-581A>G	XP_016877531.1:n.-581A>G
XR_001751183.1:n.497A>G
XR_001751184.1:n.497A>G
XR_001751185.1:n.497A>G