Canonical Allele Identifier: CA7558948

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50941529T>G , CM000677.2:g.50941529T>G	GRCh38
NC_000015.9:g.51233726T>G , CM000677.1:g.51233726T>G	GRCh37
NC_000015.8:g.49021018T>G	NCBI36
NG_031875.1:g.37858T>G
NG_031875.2:g.37858T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.1031T>G MANE Select	ENSP00000261842.5:p.Phe344Cys
ENST00000261842.9:c.1031T>G	ENSP00000261842.5:p.Phe344Cys
ENST00000558439.5:c.*153T>G	ENSP00000452712.1:n.*153T>G
ENST00000560508.1:c.806T>G	ENSP00000452976.1:p.Phe269Cys
ENST00000561393.5:c.*75T>G	ENSP00000452711.1:n.*75T>G
ENST00000561441.5:c.1031T>G	ENSP00000453112.1:p.Phe344Cys
NM_001252127.1:c.806T>G	NP_001239056.1:p.Phe269Cys
NM_007347.4:c.1031T>G	NP_031373.2:p.Phe344Cys
XM_005254264.2:c.806T>G	XP_005254321.1:p.Phe269Cys
XM_006720447.2:c.806T>G	XP_006720510.1:p.Phe269Cys
XM_011521408.1:c.851T>G	XP_011519710.1:p.Phe284Cys
XM_011521409.1:c.-322T>G	XP_011519711.1:n.-322T>G
XM_005254264.4:c.806T>G	XP_005254321.1:p.Phe269Cys
XM_006720447.4:c.806T>G	XP_006720510.1:p.Phe269Cys
XM_017022042.2:c.149T>G	XP_016877531.1:p.Phe50Cys
XR_001751183.1:n.1138T>G
XR_001751184.1:n.1138T>G
XR_001751185.1:n.1138T>G
NM_007347.5:c.1031T>G MANE Select	NP_031373.2:p.Phe344Cys
NM_001252127.2:c.806T>G	NP_001239056.1:p.Phe269Cys