Canonical Allele Identifier: CA2573150989

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 1643951
• ClinVar RCV Id: RCV002138619
• dbSNP Id: rs2141126254

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50912074T>G , CM000677.2:g.50912074T>G	GRCh38
NC_000015.9:g.51204271T>G , CM000677.1:g.51204271T>G	GRCh37
NC_000015.8:g.48991563T>G	NCBI36
NG_031875.1:g.8403T>G
NG_031875.2:g.8403T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.151-4T>G MANE Select	ENSP00000261842.5:n.151-4T>G
ENST00000261842.9:c.151-4T>G	ENSP00000261842.5:n.151-4T>G
ENST00000558439.5:c.151-4T>G	ENSP00000452712.1:n.151-4T>G
ENST00000560508.1:c.-98-4T>G	ENSP00000452976.1:n.-98-4T>G
ENST00000561393.5:c.-98-4T>G	ENSP00000452711.1:n.-98-4T>G
ENST00000561441.5:c.151-4T>G	ENSP00000453112.1:n.151-4T>G
NM_001252127.1:c.-98-4T>G	NP_001239056.1:n.-98-4T>G
NM_007347.4:c.151-4T>G	NP_031373.2:n.151-4T>G
XM_005254264.2:c.-75-4T>G	XP_005254321.1:n.-75-4T>G
XM_006720447.2:c.-75-4T>G	XP_006720510.1:n.-75-4T>G
XM_011521409.1:c.-1290-4T>G	XP_011519711.1:n.-1290-4T>G
XM_005254264.4:c.-75-4T>G	XP_005254321.1:n.-75-4T>G
XM_006720447.4:c.-75-4T>G	XP_006720510.1:n.-75-4T>G
XM_017022042.2:c.-820-4T>G	XP_016877531.1:n.-820-4T>G
XR_001751183.1:n.258-4T>G
XR_001751184.1:n.258-4T>G
XR_001751185.1:n.258-4T>G
NM_007347.5:c.151-4T>G MANE Select	NP_031373.2:n.151-4T>G
NM_001252127.2:c.-98-4T>G	NP_001239056.1:n.-98-4T>G