Canonical Allele Identifier: CA7559023

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 432244
• ClinVar RCV Id: RCV000498765 ; RCV000633021 ; RCV001722419 ; RCV001848861 ; RCV003902750
• dbSNP Id: rs148817957
• ExAC: 15:51240316 A / C
• gnomAD v2: 15-51240316-A-C
• gnomAD v3: 15-50948119-A-C
• gnomAD v4: 15-50948119-A-C
• MyVariant Identifiers: chr15:g.51240316A>C (hg19) ; chr15:g.50948119A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50948119A>C , CM000677.2:g.50948119A>C	GRCh38
NC_000015.9:g.51240316A>C , CM000677.1:g.51240316A>C	GRCh37
NC_000015.8:g.49027608A>C	NCBI36
NG_031875.1:g.44448A>C
NG_031875.2:g.44448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.1276A>C MANE Select	ENSP00000261842.5:p.Ile426Leu
ENST00000261842.9:c.1276A>C	ENSP00000261842.5:p.Ile426Leu
ENST00000558439.5:c.*398A>C	ENSP00000452712.1:n.*398A>C
ENST00000560508.1:c.1051A>C	ENSP00000452976.1:p.Ile351Leu
ENST00000561393.5:c.*320A>C	ENSP00000452711.1:n.*320A>C
ENST00000561441.5:c.*137A>C	ENSP00000453112.1:n.*137A>C
NM_001252127.1:c.1051A>C	NP_001239056.1:p.Ile351Leu
NM_007347.4:c.1276A>C	NP_031373.2:p.Ile426Leu
XM_005254264.2:c.1051A>C	XP_005254321.1:p.Ile351Leu
XM_006720447.2:c.1051A>C	XP_006720510.1:p.Ile351Leu
XM_011521408.1:c.1096A>C	XP_011519710.1:p.Ile366Leu
XM_011521409.1:c.-77A>C	XP_011519711.1:n.-77A>C
XM_005254264.4:c.1051A>C	XP_005254321.1:p.Ile351Leu
XM_006720447.4:c.1051A>C	XP_006720510.1:p.Ile351Leu
XM_017022042.2:c.394A>C	XP_016877531.1:p.Ile132Leu
XR_001751183.1:n.1383A>C
XR_001751184.1:n.1383A>C
XR_001751185.1:n.1383A>C
NM_007347.5:c.1276A>C MANE Select	NP_031373.2:p.Ile426Leu
NM_001252127.2:c.1051A>C	NP_001239056.1:p.Ile351Leu