Canonical Allele Identifier: CA16042884

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 373640
• ClinVar RCV Id: RCV000413080
• dbSNP Id: rs1057518523
• gnomAD v4: 15-50908776-G-T
• MyVariant Identifiers: chr15:g.51200973G>T (hg19) ; chr15:g.50908776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50908776G>T , CM000677.2:g.50908776G>T	GRCh38
NC_000015.9:g.51200973G>T , CM000677.1:g.51200973G>T	GRCh37
NC_000015.8:g.48988265G>T	NCBI36
NG_031875.1:g.5105G>T
NG_031875.2:g.5105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.-3G>T MANE Select	ENSP00000261842.5:n.-3G>T
ENST00000261842.9:c.-3G>T	ENSP00000261842.5:n.-3G>T
ENST00000558439.5:c.-3G>T	ENSP00000452712.1:n.-3G>T
ENST00000561393.5:c.-251G>T	ENSP00000452711.1:n.-251G>T
ENST00000561441.5:c.-3G>T	ENSP00000453112.1:n.-3G>T
NM_001252127.1:c.-251G>T	NP_001239056.1:n.-251G>T
NM_007347.4:c.-3G>T	NP_031373.2:n.-3G>T
XM_005254264.2:c.-76+133G>T	XP_005254321.1:n.-76+133G>T
XM_011521409.1:c.-1443G>T	XP_011519711.1:n.-1443G>T
XM_005254264.4:c.-76+133G>T	XP_005254321.1:n.-76+133G>T
XM_017022042.2:c.-973G>T	XP_016877531.1:n.-973G>T
XR_001751183.1:n.105G>T
XR_001751184.1:n.105G>T
XR_001751185.1:n.105G>T
NM_007347.5:c.-3G>T MANE Select	NP_031373.2:n.-3G>T
NM_001252127.2:c.-251G>T	NP_001239056.1:n.-251G>T