Canonical Allele Identifier: CA392419887

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997381-A-G
• MyVariant Identifiers: chr15:g.51289578A>G (hg19) ; chr15:g.50997381A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997381A>G , CM000677.2:g.50997381A>G	GRCh38
NC_000015.9:g.51289578A>G , CM000677.1:g.51289578A>G	GRCh37
NC_000015.8:g.49076870A>G	NCBI36
NG_031875.1:g.93710A>G
NG_031875.2:g.93710A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2402A>G MANE Select	ENSP00000261842.5:p.Glu801Gly
ENST00000261842.9:c.2402A>G	ENSP00000261842.5:p.Glu801Gly
ENST00000558439.5:c.*1526A>G	ENSP00000452712.1:n.*1526A>G
ENST00000560508.1:c.2177A>G	ENSP00000452976.1:p.Glu726Gly
ENST00000561393.5:c.*1446A>G	ENSP00000452711.1:n.*1446A>G
NM_001252127.1:c.2177A>G	NP_001239056.1:p.Glu726Gly
NM_007347.4:c.2402A>G	NP_031373.2:p.Glu801Gly
XM_005254264.2:c.2177A>G	XP_005254321.1:p.Glu726Gly
XM_006720447.2:c.2177A>G	XP_006720510.1:p.Glu726Gly
XM_011521408.1:c.2222A>G	XP_011519710.1:p.Glu741Gly
XM_011521409.1:c.1052A>G	XP_011519711.1:p.Glu351Gly
XM_005254264.4:c.2177A>G	XP_005254321.1:p.Glu726Gly
XM_006720447.4:c.2177A>G	XP_006720510.1:p.Glu726Gly
XM_017022042.2:c.1520A>G	XP_016877531.1:p.Glu507Gly
XR_001751183.1:n.2509A>G
XR_001751184.1:n.2385A>G
NM_007347.5:c.2402A>G MANE Select	NP_031373.2:p.Glu801Gly
NM_001252127.2:c.2177A>G	NP_001239056.1:p.Glu726Gly