Canonical Allele Identifier: CA270529316

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51002536A>G , CM000677.2:g.51002536A>G	GRCh38
NC_000015.9:g.51294733A>G , CM000677.1:g.51294733A>G	GRCh37
NC_000015.8:g.49082025A>G	NCBI36
NG_031875.1:g.98865A>G
NG_031875.2:g.98865A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.3288A>G MANE Select	NP_031373.2:p.Pro1096=
ENST00000261842.10:c.3288A>G MANE Select	ENSP00000261842.5:p.Pro1096=
NM_001252127.1:c.3063A>G	NP_001239056.1:p.Pro1021=
NM_001252127.2:c.3063A>G	NP_001239056.1:p.Pro1021=
NM_007347.4:c.3288A>G	NP_031373.2:p.Pro1096=
ENST00000261842.9:c.3288A>G	ENSP00000261842.5:p.Pro1096=
ENST00000558439.5:c.*2412A>G	ENSP00000452712.1:n.*2412A>G
ENST00000560508.1:c.3063A>G	ENSP00000452976.1:p.Pro1021=
ENST00000561393.5:c.*2332A>G	ENSP00000452711.1:n.*2332A>G
ENST00000561397.1:n.328A>G
XM_005254264.2:c.3063A>G	XP_005254321.1:p.Pro1021=
XM_005254264.4:c.3063A>G	XP_005254321.1:p.Pro1021=
XM_006720447.2:c.3063A>G	XP_006720510.1:p.Pro1021=
XM_006720447.4:c.3063A>G	XP_006720510.1:p.Pro1021=
XM_011521408.1:c.3108A>G	XP_011519710.1:p.Pro1036=
XM_011521409.1:c.1938A>G	XP_011519711.1:p.Pro646=
XM_017022042.2:c.2406A>G	XP_016877531.1:p.Pro802=
XR_001751183.1:n.3204A>G
XR_001751184.1:n.3271A>G