Canonical Allele Identifier: CA7559184
Gene: AP4E1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.50968263G>A
GRCh37 chr15:g.51260460G>A
Revel Score:
ENST00000261842 (MANE Select) 0.149
gnomAD v2:
15:51260460 G / A
gnomAD v3:
15:50968263 G / A
gnomAD v4:
chr15-50968263-G-A
Joint Max Group AF 0.00038566 (NFE)
Genomes Max Group AF 0.000457 (NFE)
Exomes Max Group AF 0.0003733 (NFE)
ClinVar Allele:
242086
ClinVar RCV:
RCV000232082
RCV002293430
RCV003987469
ClinVar Variation:
240837
dbSNP:
142215198
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50968263G>A , CM000677.2:g.50968263G>A GRCh38
NC_000015.9:g.51260460G>A , CM000677.1:g.51260460G>A GRCh37
NC_000015.8:g.49047752G>A NCBI36
NG_031875.1:g.64592G>A
NG_031875.2:g.64592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261842.10:c.1852G>A MANE Select ENSP00000261842.5:p.Val618Ile
ENST00000261842.9:c.1852G>A ENSP00000261842.5:p.Val618Ile
ENST00000558439.5:c.*976G>A ENSP00000452712.1:n.*976G>A
ENST00000560508.1:c.1627G>A ENSP00000452976.1:p.Val543Ile
ENST00000561393.5:c.*896G>A ENSP00000452711.1:n.*896G>A
NM_001252127.1:c.1627G>A NP_001239056.1:p.Val543Ile
NM_007347.4:c.1852G>A NP_031373.2:p.Val618Ile
XM_005254264.2:c.1627G>A XP_005254321.1:p.Val543Ile
XM_006720447.2:c.1627G>A XP_006720510.1:p.Val543Ile
XM_011521408.1:c.1672G>A XP_011519710.1:p.Val558Ile
XM_011521409.1:c.502G>A XP_011519711.1:p.Val168Ile
XM_005254264.4:c.1627G>A XP_005254321.1:p.Val543Ile
XM_006720447.4:c.1627G>A XP_006720510.1:p.Val543Ile
XM_017022042.2:c.970G>A XP_016877531.1:p.Val324Ile
XR_001751183.1:n.1959G>A
XR_001751184.1:n.1959G>A
NM_007347.5:c.1852G>A MANE Select NP_031373.2:p.Val618Ile
NM_001252127.2:c.1627G>A NP_001239056.1:p.Val543Ile
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