Canonical Allele Identifier: CA7558636

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50908845G>C , CM000677.2:g.50908845G>C	GRCh38
NC_000015.9:g.51201042G>C , CM000677.1:g.51201042G>C	GRCh37
NC_000015.8:g.48988334G>C	NCBI36
NG_031875.1:g.5174G>C
NG_031875.2:g.5174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.67G>C MANE Select	ENSP00000261842.5:p.Gly23Arg
ENST00000261842.9:c.67G>C	ENSP00000261842.5:p.Gly23Arg
ENST00000558439.5:c.67G>C	ENSP00000452712.1:p.Gly23Arg
ENST00000560508.1:c.-182G>C	ENSP00000452976.1:n.-182G>C
ENST00000561393.5:c.-182G>C	ENSP00000452711.1:n.-182G>C
ENST00000561441.5:c.67G>C	ENSP00000453112.1:p.Gly23Arg
NM_001252127.1:c.-182G>C	NP_001239056.1:n.-182G>C
NM_007347.4:c.67G>C	NP_031373.2:p.Gly23Arg
XM_005254264.2:c.-76+202G>C	XP_005254321.1:n.-76+202G>C
XM_011521409.1:c.-1374G>C	XP_011519711.1:n.-1374G>C
XM_005254264.4:c.-76+202G>C	XP_005254321.1:n.-76+202G>C
XM_017022042.2:c.-904G>C	XP_016877531.1:n.-904G>C
XR_001751183.1:n.174G>C
XR_001751184.1:n.174G>C
XR_001751185.1:n.174G>C
NM_007347.5:c.67G>C MANE Select	NP_031373.2:p.Gly23Arg
NM_001252127.2:c.-182G>C	NP_001239056.1:n.-182G>C