Canonical Allele Identifier: CA2176626638

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50912167G= , CM000677.2:g.50912167G=	GRCh38
NC_000015.9:g.51204364G= , CM000677.1:g.51204364G=	GRCh37
NC_000015.8:g.48991656G=	NCBI36
NG_031875.1:g.8496G=
NG_031875.2:g.8496G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.222+18G= MANE Select	ENSP00000261842.5:n.222+18G=
ENST00000261842.9:c.222+18G=	ENSP00000261842.5:n.222+18G=
ENST00000558439.5:c.222+18G=	ENSP00000452712.1:n.222+18G=
ENST00000560508.1:c.-27+18G=	ENSP00000452976.1:n.-27+18G=
ENST00000561393.5:c.-27+18G=	ENSP00000452711.1:n.-27+18G=
ENST00000561441.5:c.222+18G=	ENSP00000453112.1:n.222+18G=
NM_001252127.1:c.-27+18G=	NP_001239056.1:n.-27+18G=
NM_007347.4:c.222+18G=	NP_031373.2:n.222+18G=
XM_005254264.2:c.-4+18G=	XP_005254321.1:n.-4+18G=
XM_006720447.2:c.-4+18G=	XP_006720510.1:n.-4+18G=
XM_011521409.1:c.-1219+18G=	XP_011519711.1:n.-1219+18G=
XM_005254264.4:c.-4+18G=	XP_005254321.1:n.-4+18G=
XM_006720447.4:c.-4+18G=	XP_006720510.1:n.-4+18G=
XM_017022042.2:c.-749+18G=	XP_016877531.1:n.-749+18G=
XR_001751183.1:n.329+18G=
XR_001751184.1:n.329+18G=
XR_001751185.1:n.329+18G=
NM_007347.5:c.222+18G= MANE Select	NP_031373.2:n.222+18G=
NM_001252127.2:c.-27+18G=	NP_001239056.1:n.-27+18G=