Canonical Allele Identifier: CA230885

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50929079C>A , CM000677.2:g.50929079C>A	GRCh38
NC_000015.9:g.51221276C>A , CM000677.1:g.51221276C>A	GRCh37
NC_000015.8:g.49008568C>A	NCBI36
NG_031875.1:g.25408C>A
NG_031875.2:g.25408C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.613C>A MANE Select	NP_031373.2:p.His205Asn
ENST00000261842.10:c.613C>A MANE Select	ENSP00000261842.5:p.His205Asn
NM_001252127.1:c.388C>A	NP_001239056.1:p.His130Asn
NM_001252127.2:c.388C>A	NP_001239056.1:p.His130Asn
NM_007347.4:c.613C>A	NP_031373.2:p.His205Asn
ENST00000261842.9:c.613C>A	ENSP00000261842.5:p.His205Asn
ENST00000558439.5:c.613C>A	ENSP00000452712.1:p.His205Asn
ENST00000560508.1:c.388C>A	ENSP00000452976.1:p.His130Asn
ENST00000561393.5:c.388C>A	ENSP00000452711.1:p.His130Asn
ENST00000561441.5:c.613C>A	ENSP00000453112.1:p.His205Asn
XM_005254264.2:c.388C>A	XP_005254321.1:p.His130Asn
XM_005254264.4:c.388C>A	XP_005254321.1:p.His130Asn
XM_006720447.2:c.388C>A	XP_006720510.1:p.His130Asn
XM_006720447.4:c.388C>A	XP_006720510.1:p.His130Asn
XM_011521408.1:c.433C>A	XP_011519710.1:p.His145Asn
XM_011521409.1:c.-828C>A	XP_011519711.1:n.-828C>A
XM_017022042.2:c.-358C>A	XP_016877531.1:n.-358C>A
XR_001751183.1:n.720C>A
XR_001751184.1:n.720C>A
XR_001751185.1:n.720C>A