Canonical Allele Identifier: CA7559495

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51002599C>T , CM000677.2:g.51002599C>T	GRCh38
NC_000015.9:g.51294796C>T , CM000677.1:g.51294796C>T	GRCh37
NC_000015.8:g.49082088C>T	NCBI36
NG_031875.1:g.98928C>T
NG_031875.2:g.98928C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.3351C>T MANE Select	NP_031373.2:p.Ser1117=
ENST00000261842.10:c.3351C>T MANE Select	ENSP00000261842.5:p.Ser1117=
NM_001252127.1:c.3126C>T	NP_001239056.1:p.Ser1042=
NM_001252127.2:c.3126C>T	NP_001239056.1:p.Ser1042=
NM_007347.4:c.3351C>T	NP_031373.2:p.Ser1117=
ENST00000261842.9:c.3351C>T	ENSP00000261842.5:p.Ser1117=
ENST00000558439.5:c.*2475C>T	ENSP00000452712.1:n.*2475C>T
ENST00000560508.1:c.3126C>T	ENSP00000452976.1:p.Ser1042=
ENST00000561393.5:c.*2395C>T	ENSP00000452711.1:n.*2395C>T
ENST00000561397.1:n.391C>T
XM_005254264.2:c.3126C>T	XP_005254321.1:p.Ser1042=
XM_005254264.4:c.3126C>T	XP_005254321.1:p.Ser1042=
XM_006720447.2:c.3126C>T	XP_006720510.1:p.Ser1042=
XM_006720447.4:c.3126C>T	XP_006720510.1:p.Ser1042=
XM_011521408.1:c.3171C>T	XP_011519710.1:p.Ser1057=
XM_011521409.1:c.2001C>T	XP_011519711.1:p.Ser667=
XM_017022042.2:c.2469C>T	XP_016877531.1:p.Ser823=
XR_001751183.1:n.3267C>T
XR_001751184.1:n.3334C>T