Canonical Allele Identifier: CA2176640826

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50958492G= , CM000677.2:g.50958492G=	GRCh38
NC_000015.9:g.51250689G= , CM000677.1:g.51250689G=	GRCh37
NC_000015.8:g.49037981G=	NCBI36
NG_031875.1:g.54821G=
NG_031875.2:g.54821G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1549G= MANE Select	NP_031373.2:p.Val517=
ENST00000261842.10:c.1549G= MANE Select	ENSP00000261842.5:p.Val517=
NM_001252127.1:c.1324G=	NP_001239056.1:p.Val442=
NM_001252127.2:c.1324G=	NP_001239056.1:p.Val442=
NM_007347.4:c.1549G=	NP_031373.2:p.Val517=
ENST00000261842.9:c.1549G=	ENSP00000261842.5:p.Val517=
ENST00000558439.5:c.*673G=	ENSP00000452712.1:n.*673G=
ENST00000560508.1:c.1324G=	ENSP00000452976.1:p.Val442=
ENST00000561393.5:c.*593G=	ENSP00000452711.1:n.*593G=
XM_005254264.2:c.1324G=	XP_005254321.1:p.Val442=
XM_005254264.4:c.1324G=	XP_005254321.1:p.Val442=
XM_006720447.2:c.1324G=	XP_006720510.1:p.Val442=
XM_006720447.4:c.1324G=	XP_006720510.1:p.Val442=
XM_011521408.1:c.1369G=	XP_011519710.1:p.Val457=
XM_011521409.1:c.199G=	XP_011519711.1:p.Val67=
XM_017022042.2:c.667G=	XP_016877531.1:p.Val223=
XR_001751183.1:n.1656G=
XR_001751184.1:n.1656G=
XR_001751185.1:n.1658G=