Canonical Allele Identifier: CA7558884

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50930954A>G , CM000677.2:g.50930954A>G	GRCh38
NC_000015.9:g.51223151A>G , CM000677.1:g.51223151A>G	GRCh37
NC_000015.8:g.49010443A>G	NCBI36
NG_031875.1:g.27283A>G
NG_031875.2:g.27283A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.852A>G MANE Select	NP_031373.2:p.Leu284=
ENST00000261842.10:c.852A>G MANE Select	ENSP00000261842.5:p.Leu284=
NM_001252127.1:c.627A>G	NP_001239056.1:p.Leu209=
NM_001252127.2:c.627A>G	NP_001239056.1:p.Leu209=
NM_007347.4:c.852A>G	NP_031373.2:p.Leu284=
ENST00000261842.9:c.852A>G	ENSP00000261842.5:p.Leu284=
ENST00000558439.5:c.852A>G	ENSP00000452712.1:p.Leu284=
ENST00000560508.1:c.627A>G	ENSP00000452976.1:p.Leu209=
ENST00000561393.5:c.627A>G	ENSP00000452711.1:p.Leu209=
ENST00000561441.5:c.852A>G	ENSP00000453112.1:p.Leu284=
XM_005254264.2:c.627A>G	XP_005254321.1:p.Leu209=
XM_005254264.4:c.627A>G	XP_005254321.1:p.Leu209=
XM_006720447.2:c.627A>G	XP_006720510.1:p.Leu209=
XM_006720447.4:c.627A>G	XP_006720510.1:p.Leu209=
XM_011521408.1:c.672A>G	XP_011519710.1:p.Leu224=
XM_011521409.1:c.-589A>G	XP_011519711.1:n.-589A>G
XM_017022042.2:c.-119A>G	XP_016877531.1:n.-119A>G
XR_001751183.1:n.959A>G
XR_001751184.1:n.959A>G
XR_001751185.1:n.959A>G