Canonical Allele Identifier: CA7558688

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 380768
• ClinVar RCV Id: RCV000421665 ; RCV000611171 ; RCV001520601
• dbSNP Id: rs1147129
• ExAC: 15:51204364 G / A
• gnomAD v2: 15-51204364-G-A
• gnomAD v3: 15-50912167-G-A
• gnomAD v4: 15-50912167-G-A
• MyVariant Identifiers: chr15:g.51204364G>A (hg19) ; chr15:g.50912167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50912167G>A , CM000677.2:g.50912167G>A	GRCh38
NC_000015.9:g.51204364G>A , CM000677.1:g.51204364G>A	GRCh37
NC_000015.8:g.48991656G>A	NCBI36
NG_031875.1:g.8496G>A
NG_031875.2:g.8496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.222+18G>A MANE Select	ENSP00000261842.5:n.222+18G>A
ENST00000261842.9:c.222+18G>A	ENSP00000261842.5:n.222+18G>A
ENST00000558439.5:c.222+18G>A	ENSP00000452712.1:n.222+18G>A
ENST00000560508.1:c.-27+18G>A	ENSP00000452976.1:n.-27+18G>A
ENST00000561393.5:c.-27+18G>A	ENSP00000452711.1:n.-27+18G>A
ENST00000561441.5:c.222+18G>A	ENSP00000453112.1:n.222+18G>A
NM_001252127.1:c.-27+18G>A	NP_001239056.1:n.-27+18G>A
NM_007347.4:c.222+18G>A	NP_031373.2:n.222+18G>A
XM_005254264.2:c.-4+18G>A	XP_005254321.1:n.-4+18G>A
XM_006720447.2:c.-4+18G>A	XP_006720510.1:n.-4+18G>A
XM_011521409.1:c.-1219+18G>A	XP_011519711.1:n.-1219+18G>A
XM_005254264.4:c.-4+18G>A	XP_005254321.1:n.-4+18G>A
XM_006720447.4:c.-4+18G>A	XP_006720510.1:n.-4+18G>A
XM_017022042.2:c.-749+18G>A	XP_016877531.1:n.-749+18G>A
XR_001751183.1:n.329+18G>A
XR_001751184.1:n.329+18G>A
XR_001751185.1:n.329+18G>A
NM_007347.5:c.222+18G>A MANE Select	NP_031373.2:n.222+18G>A
NM_001252127.2:c.-27+18G>A	NP_001239056.1:n.-27+18G>A