Canonical Allele Identifier: CA151845

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51002635G>A , CM000677.2:g.51002635G>A	GRCh38
NC_000015.9:g.51294832G>A , CM000677.1:g.51294832G>A	GRCh37
NC_000015.8:g.49082124G>A	NCBI36
NG_031875.1:g.98964G>A
NG_031875.2:g.98964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.3387G>A MANE Select	ENSP00000261842.5:p.Gln1129=
ENST00000261842.9:c.3387G>A	ENSP00000261842.5:p.Gln1129=
ENST00000558439.5:c.*2511G>A	ENSP00000452712.1:n.*2511G>A
ENST00000560508.1:c.3162G>A	ENSP00000452976.1:p.Gln1054=
ENST00000561393.5:c.*2431G>A	ENSP00000452711.1:n.*2431G>A
ENST00000561397.1:n.427G>A
NM_001252127.1:c.3162G>A	NP_001239056.1:p.Gln1054=
NM_007347.4:c.3387G>A	NP_031373.2:p.Gln1129=
XM_005254264.2:c.3162G>A	XP_005254321.1:p.Gln1054=
XM_006720447.2:c.3162G>A	XP_006720510.1:p.Gln1054=
XM_011521408.1:c.3207G>A	XP_011519710.1:p.Gln1069=
XM_011521409.1:c.2037G>A	XP_011519711.1:p.Gln679=
XM_005254264.4:c.3162G>A	XP_005254321.1:p.Gln1054=
XM_006720447.4:c.3162G>A	XP_006720510.1:p.Gln1054=
XM_017022042.2:c.2505G>A	XP_016877531.1:p.Gln835=
XR_001751183.1:n.3303G>A
XR_001751184.1:n.3370G>A
NM_007347.5:c.3387G>A MANE Select	NP_031373.2:p.Gln1129=
NM_001252127.2:c.3162G>A	NP_001239056.1:p.Gln1054=