Canonical Allele Identifier: CA490341951

Gene: AP4E1

Linked Data

• dbSNP Id: rs2064889464
• gnomAD v3: 15-50997326-C-T
• gnomAD v4: 15-50997326-C-T
• MyVariant Identifiers: chr15:g.51289523C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997326C>T , CM000677.2:g.50997326C>T	GRCh38
NC_000015.9:g.51289523C>T , CM000677.1:g.51289523C>T	GRCh37
NC_000015.8:g.49076815C>T	NCBI36
NG_031875.1:g.93655C>T
NG_031875.2:g.93655C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347C>T MANE Select	ENSP00000261842.5:p.Leu783=
ENST00000261842.9:c.2347C>T	ENSP00000261842.5:p.Leu783=
ENST00000558439.5:c.*1471C>T	ENSP00000452712.1:n.*1471C>T
ENST00000560508.1:c.2122C>T	ENSP00000452976.1:p.Leu708=
ENST00000561393.5:c.*1391C>T	ENSP00000452711.1:n.*1391C>T
NM_001252127.1:c.2122C>T	NP_001239056.1:p.Leu708=
NM_007347.4:c.2347C>T	NP_031373.2:p.Leu783=
XM_005254264.2:c.2122C>T	XP_005254321.1:p.Leu708=
XM_006720447.2:c.2122C>T	XP_006720510.1:p.Leu708=
XM_011521408.1:c.2167C>T	XP_011519710.1:p.Leu723=
XM_011521409.1:c.997C>T	XP_011519711.1:p.Leu333=
XM_005254264.4:c.2122C>T	XP_005254321.1:p.Leu708=
XM_006720447.4:c.2122C>T	XP_006720510.1:p.Leu708=
XM_017022042.2:c.1465C>T	XP_016877531.1:p.Leu489=
XR_001751183.1:n.2454C>T
XR_001751184.1:n.2330C>T
NM_007347.5:c.2347C>T MANE Select	NP_031373.2:p.Leu783=
NM_001252127.2:c.2122C>T	NP_001239056.1:p.Leu708=