Canonical Allele Identifier: CA16606981

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 388440
• ClinVar RCV Id: RCV000433703
• dbSNP Id: rs773502598
• gnomAD v2: 15-51200929-C-A
• gnomAD v4: 15-50908732-C-A
• MyVariant Identifiers: chr15:g.51200929C>A (hg19) ; chr15:g.50908732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50908732C>A , CM000677.2:g.50908732C>A	GRCh38
NC_000015.9:g.51200929C>A , CM000677.1:g.51200929C>A	GRCh37
NC_000015.8:g.48988221C>A	NCBI36
NG_031875.1:g.5061C>A
NG_031875.2:g.5061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.-47C>A MANE Select	ENSP00000261842.5:n.-47C>A
ENST00000261842.9:c.-47C>A	ENSP00000261842.5:n.-47C>A
ENST00000558439.5:c.-47C>A	ENSP00000452712.1:n.-47C>A
ENST00000561393.5:c.-295C>A	ENSP00000452711.1:n.-295C>A
ENST00000561441.5:c.-47C>A	ENSP00000453112.1:n.-47C>A
NM_001252127.1:c.-295C>A	NP_001239056.1:n.-295C>A
NM_007347.4:c.-47C>A	NP_031373.2:n.-47C>A
XM_005254264.2:c.-76+89C>A	XP_005254321.1:n.-76+89C>A
XM_011521409.1:c.-1487C>A	XP_011519711.1:n.-1487C>A
XM_005254264.4:c.-76+89C>A	XP_005254321.1:n.-76+89C>A
XM_017022042.2:c.-1017C>A	XP_016877531.1:n.-1017C>A
XR_001751183.1:n.61C>A
XR_001751184.1:n.61C>A
XR_001751185.1:n.61C>A
NM_007347.5:c.-47C>A MANE Select	NP_031373.2:n.-47C>A
NM_001252127.2:c.-295C>A	NP_001239056.1:n.-295C>A