Canonical Allele Identifier: CA7558966

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50941619T>A , CM000677.2:g.50941619T>A	GRCh38
NC_000015.9:g.51233816T>A , CM000677.1:g.51233816T>A	GRCh37
NC_000015.8:g.49021108T>A	NCBI36
NG_031875.1:g.37948T>A
NG_031875.2:g.37948T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1067-47T>A MANE Select	NP_031373.2:n.1067-47T>A
ENST00000261842.10:c.1067-47T>A MANE Select	ENSP00000261842.5:n.1067-47T>A
NM_001252127.1:c.842-47T>A	NP_001239056.1:n.842-47T>A
NM_001252127.2:c.842-47T>A	NP_001239056.1:n.842-47T>A
NM_007347.4:c.1067-47T>A	NP_031373.2:n.1067-47T>A
ENST00000261842.9:c.1067-47T>A	ENSP00000261842.5:n.1067-47T>A
ENST00000558439.5:c.*189-47T>A	ENSP00000452712.1:n.*189-47T>A
ENST00000560508.1:c.842-47T>A	ENSP00000452976.1:n.842-47T>A
ENST00000561393.5:c.*111-47T>A	ENSP00000452711.1:n.*111-47T>A
ENST00000561441.5:c.1066+55T>A	ENSP00000453112.1:n.1066+55T>A
XM_005254264.2:c.842-47T>A	XP_005254321.1:n.842-47T>A
XM_005254264.4:c.842-47T>A	XP_005254321.1:n.842-47T>A
XM_006720447.2:c.842-47T>A	XP_006720510.1:n.842-47T>A
XM_006720447.4:c.842-47T>A	XP_006720510.1:n.842-47T>A
XM_011521408.1:c.887-47T>A	XP_011519710.1:n.887-47T>A
XM_011521409.1:c.-286-47T>A	XP_011519711.1:n.-286-47T>A
XM_017022042.2:c.185-47T>A	XP_016877531.1:n.185-47T>A
XR_001751183.1:n.1174-47T>A
XR_001751184.1:n.1174-47T>A
XR_001751185.1:n.1174-47T>A