Canonical Allele Identifier: CA7558657

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50908961A>G , CM000677.2:g.50908961A>G	GRCh38
NC_000015.9:g.51201158A>G , CM000677.1:g.51201158A>G	GRCh37
NC_000015.8:g.48988450A>G	NCBI36
NG_031875.1:g.5290A>G
NG_031875.2:g.5290A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.150+33A>G MANE Select	NP_031373.2:n.150+33A>G
ENST00000261842.10:c.150+33A>G MANE Select	ENSP00000261842.5:n.150+33A>G
NM_001252127.1:c.-99+33A>G	NP_001239056.1:n.-99+33A>G
NM_001252127.2:c.-99+33A>G	NP_001239056.1:n.-99+33A>G
NM_007347.4:c.150+33A>G	NP_031373.2:n.150+33A>G
ENST00000261842.9:c.150+33A>G	ENSP00000261842.5:n.150+33A>G
ENST00000558439.5:c.150+33A>G	ENSP00000452712.1:n.150+33A>G
ENST00000560508.1:c.-99+33A>G	ENSP00000452976.1:n.-99+33A>G
ENST00000561393.5:c.-99+33A>G	ENSP00000452711.1:n.-99+33A>G
ENST00000561441.5:c.150+33A>G	ENSP00000453112.1:n.150+33A>G
XM_005254264.2:c.-76+318A>G	XP_005254321.1:n.-76+318A>G
XM_005254264.4:c.-76+318A>G	XP_005254321.1:n.-76+318A>G
XM_011521409.1:c.-1291+33A>G	XP_011519711.1:n.-1291+33A>G
XM_017022042.2:c.-821+33A>G	XP_016877531.1:n.-821+33A>G
XR_001751183.1:n.257+33A>G
XR_001751184.1:n.257+33A>G
XR_001751185.1:n.257+33A>G