Canonical Allele Identifier: CA2176672588

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997404A= , CM000677.2:g.50997404A=	GRCh38
NC_000015.9:g.51289601A= , CM000677.1:g.51289601A=	GRCh37
NC_000015.8:g.49076893A=	NCBI36
NG_031875.1:g.93733A=
NG_031875.2:g.93733A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2425A= MANE Select	ENSP00000261842.5:p.Ser809=
ENST00000261842.9:c.2425A=	ENSP00000261842.5:p.Ser809=
ENST00000558439.5:c.*1549A=	ENSP00000452712.1:n.*1549A=
ENST00000560508.1:c.2200A=	ENSP00000452976.1:p.Ser734=
ENST00000561393.5:c.*1469A=	ENSP00000452711.1:n.*1469A=
NM_001252127.1:c.2200A=	NP_001239056.1:p.Ser734=
NM_007347.4:c.2425A=	NP_031373.2:p.Ser809=
XM_005254264.2:c.2200A=	XP_005254321.1:p.Ser734=
XM_006720447.2:c.2200A=	XP_006720510.1:p.Ser734=
XM_011521408.1:c.2245A=	XP_011519710.1:p.Ser749=
XM_011521409.1:c.1075A=	XP_011519711.1:p.Ser359=
XM_005254264.4:c.2200A=	XP_005254321.1:p.Ser734=
XM_006720447.4:c.2200A=	XP_006720510.1:p.Ser734=
XM_017022042.2:c.1543A=	XP_016877531.1:p.Ser515=
XR_001751183.1:n.2532A=
XR_001751184.1:n.2408A=
NM_007347.5:c.2425A= MANE Select	NP_031373.2:p.Ser809=
NM_001252127.2:c.2200A=	NP_001239056.1:p.Ser734=