Canonical Allele Identifier: CA151844

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50999064A>G , CM000677.2:g.50999064A>G	GRCh38
NC_000015.9:g.51291261A>G , CM000677.1:g.51291261A>G	GRCh37
NC_000015.8:g.49078553A>G	NCBI36
NG_031875.1:g.95393A>G
NG_031875.2:g.95393A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.2905-8A>G MANE Select	NP_031373.2:n.2905-8A>G
ENST00000261842.10:c.2905-8A>G MANE Select	ENSP00000261842.5:n.2905-8A>G
NM_001252127.1:c.2680-8A>G	NP_001239056.1:n.2680-8A>G
NM_001252127.2:c.2680-8A>G	NP_001239056.1:n.2680-8A>G
NM_007347.4:c.2905-8A>G	NP_031373.2:n.2905-8A>G
ENST00000261842.9:c.2905-8A>G	ENSP00000261842.5:n.2905-8A>G
ENST00000558439.5:c.*2029-8A>G	ENSP00000452712.1:n.*2029-8A>G
ENST00000560508.1:c.2680-8A>G	ENSP00000452976.1:n.2680-8A>G
ENST00000561393.5:c.*1949-8A>G	ENSP00000452711.1:n.*1949-8A>G
ENST00000561397.1:n.135+1181A>G
XM_005254264.2:c.2680-8A>G	XP_005254321.1:n.2680-8A>G
XM_005254264.4:c.2680-8A>G	XP_005254321.1:n.2680-8A>G
XM_006720447.2:c.2680-8A>G	XP_006720510.1:n.2680-8A>G
XM_006720447.4:c.2680-8A>G	XP_006720510.1:n.2680-8A>G
XM_011521408.1:c.2725-8A>G	XP_011519710.1:n.2725-8A>G
XM_011521409.1:c.1555-8A>G	XP_011519711.1:n.1555-8A>G
XM_017022042.2:c.2023-8A>G	XP_016877531.1:n.2023-8A>G
XR_001751183.1:n.3011+1181A>G
XR_001751184.1:n.2888-8A>G