Canonical Allele Identifier: CA4375009

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100106660G>A , CM000669.2:g.100106660G>A	GRCh38
NC_000007.13:g.99704283G>A , CM000669.1:g.99704283G>A	GRCh37
NC_000007.12:g.99542219G>A	NCBI36
NG_016312.1:g.10154G>A
NG_029454.1:g.18199C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.1140G>A MANE Select	NP_004713.2:p.Met380Ile
ENST00000359593.9:c.1140G>A MANE Select	ENSP00000352603.4:p.Met380Ile
NM_001363671.1:c.1161G>A	NP_001350600.1:p.Met387Ile
NM_001363671.2:c.1161G>A	NP_001350600.1:p.Met387Ile
NM_004722.3:c.1140G>A	NP_004713.2:p.Met380Ile
ENST00000359593.8:c.1140G>A	ENSP00000352603.4:p.Met380Ile
ENST00000416938.5:c.1029G>A
ENST00000421755.5:c.1140G>A	ENSP00000412185.1:p.Met380Ile
ENST00000422582.5:c.756G>A	ENSP00000406676.1:p.Met252Ile
ENST00000429084.5:c.1161G>A	ENSP00000403663.1:p.Met387Ile
ENST00000445208.5:c.*749G>A	ENSP00000400598.1:n.*749G>A
ENST00000445295.1:c.315-121G>A
ENST00000445295.2:c.1138-121G>A	ENSP00000393723.2:n.1138-121G>A
ENST00000450807.5:c.393+146G>A	ENSP00000391585.1:n.393+146G>A
ENST00000489387.1:n.430G>A
ENST00000495154.2:n.1399G>A
ENST00000713591.1:c.1140G>A	ENSP00000518888.1:p.Met380Ile
XM_005250689.3:c.1161G>A	XP_005250746.1:p.Met387Ile
XM_005250689.4:c.1161G>A	XP_005250746.1:p.Met387Ile
XM_005250690.3:c.936G>A	XP_005250747.1:p.Met312Ile
XM_005250690.4:c.936G>A	XP_005250747.1:p.Met312Ile
XM_006716175.2:c.1159-121G>A	XP_006716238.1:n.1159-121G>A
XM_006716175.4:c.1159-121G>A	XP_006716238.1:n.1159-121G>A
XM_011516685.1:c.1161G>A	XP_011514987.1:p.Met387Ile
XM_011516686.1:c.756G>A	XP_011514988.1:p.Met252Ile
XM_011516687.1:c.465G>A	XP_011514989.1:p.Met155Ile
XM_017012790.2:c.754-121G>A	XP_016868279.1:n.754-121G>A
XM_017012791.2:c.465G>A	XP_016868280.1:p.Met155Ile
XM_024446995.1:c.1138-121G>A	XP_024302763.1:n.1138-121G>A
XM_024446996.1:c.465G>A	XP_024302764.1:p.Met155Ile