Canonical Allele Identifier: CA7558775

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50925106G>C , CM000677.2:g.50925106G>C	GRCh38
NC_000015.9:g.51217303G>C , CM000677.1:g.51217303G>C	GRCh37
NC_000015.8:g.49004595G>C	NCBI36
NG_031875.1:g.21435G>C
NG_031875.2:g.21435G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.429G>C MANE Select	NP_031373.2:p.Gln143His
ENST00000261842.10:c.429G>C MANE Select	ENSP00000261842.5:p.Gln143His
NM_001252127.1:c.204G>C	NP_001239056.1:p.Gln68His
NM_001252127.2:c.204G>C	NP_001239056.1:p.Gln68His
NM_007347.4:c.429G>C	NP_031373.2:p.Gln143His
ENST00000261842.9:c.429G>C	ENSP00000261842.5:p.Gln143His
ENST00000558439.5:c.429G>C	ENSP00000452712.1:p.Gln143His
ENST00000560508.1:c.204G>C	ENSP00000452976.1:p.Gln68His
ENST00000561393.5:c.204G>C	ENSP00000452711.1:p.Gln68His
ENST00000561441.5:c.429G>C	ENSP00000453112.1:p.Gln143His
XM_005254264.2:c.204G>C	XP_005254321.1:p.Gln68His
XM_005254264.4:c.204G>C	XP_005254321.1:p.Gln68His
XM_006720447.2:c.204G>C	XP_006720510.1:p.Gln68His
XM_006720447.4:c.204G>C	XP_006720510.1:p.Gln68His
XM_011521408.1:c.249G>C	XP_011519710.1:p.Gln83His
XM_011521409.1:c.-1012G>C	XP_011519711.1:n.-1012G>C
XM_017022042.2:c.-542G>C	XP_016877531.1:n.-542G>C
XR_001751183.1:n.536G>C
XR_001751184.1:n.536G>C
XR_001751185.1:n.536G>C