Canonical Allele Identifier: CA4375065

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100106837G>A , CM000669.2:g.100106837G>A	GRCh38
NC_000007.13:g.99704460G>A , CM000669.1:g.99704460G>A	GRCh37
NC_000007.12:g.99542396G>A	NCBI36
NG_016312.1:g.10331G>A
NG_029454.1:g.18022C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.1317G>A MANE Select	NP_004713.2:p.Trp439Ter
ENST00000359593.9:c.1317G>A MANE Select	ENSP00000352603.4:p.Trp439Ter
NM_001363671.1:c.1338G>A	NP_001350600.1:p.Trp446Ter
NM_001363671.2:c.1338G>A	NP_001350600.1:p.Trp446Ter
NM_004722.3:c.1317G>A	NP_004713.2:p.Trp439Ter
ENST00000359593.8:c.1317G>A	ENSP00000352603.4:p.Trp439Ter
ENST00000416938.5:c.1206G>A
ENST00000421755.5:c.1317G>A	ENSP00000412185.1:p.Trp439Ter
ENST00000422582.5:c.933G>A	ENSP00000406676.1:p.Trp311Ter
ENST00000429084.5:c.1338G>A	ENSP00000403663.1:p.Trp446Ter
ENST00000445208.5:c.*926G>A	ENSP00000400598.1:n.*926G>A
ENST00000445295.1:c.371G>A
ENST00000445295.2:c.1194G>A	ENSP00000393723.2:p.Trp398Ter
ENST00000450807.5:c.393+323G>A	ENSP00000391585.1:n.393+323G>A
ENST00000495154.2:n.1576G>A
ENST00000713591.1:c.1317G>A	ENSP00000518888.1:p.Trp439Ter
XM_005250689.3:c.1338G>A	XP_005250746.1:p.Trp446Ter
XM_005250689.4:c.1338G>A	XP_005250746.1:p.Trp446Ter
XM_005250690.3:c.1113G>A	XP_005250747.1:p.Trp371Ter
XM_005250690.4:c.1113G>A	XP_005250747.1:p.Trp371Ter
XM_006716175.2:c.1215G>A	XP_006716238.1:p.Trp405Ter
XM_006716175.4:c.1215G>A	XP_006716238.1:p.Trp405Ter
XM_011516685.1:c.1338G>A	XP_011514987.1:p.Trp446Ter
XM_011516686.1:c.933G>A	XP_011514988.1:p.Trp311Ter
XM_011516687.1:c.642G>A	XP_011514989.1:p.Trp214Ter
XM_017012790.2:c.810G>A	XP_016868279.1:p.Trp270Ter
XM_017012791.2:c.642G>A	XP_016868280.1:p.Trp214Ter
XM_024446995.1:c.1194G>A	XP_024302763.1:p.Trp398Ter
XM_024446996.1:c.642G>A	XP_024302764.1:p.Trp214Ter