Canonical Allele Identifier: CA368475680

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100106494C>T , CM000669.2:g.100106494C>T	GRCh38
NC_000007.13:g.99704117C>T , CM000669.1:g.99704117C>T	GRCh37
NC_000007.12:g.99542053C>T	NCBI36
NG_016312.1:g.9988C>T
NG_029454.1:g.18365G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.1117C>T MANE Select	NP_004713.2:p.Gln373Ter
ENST00000359593.9:c.1117C>T MANE Select	ENSP00000352603.4:p.Gln373Ter
NM_001363671.1:c.1138C>T	NP_001350600.1:p.Gln380Ter
NM_001363671.2:c.1138C>T	NP_001350600.1:p.Gln380Ter
NM_004722.3:c.1117C>T	NP_004713.2:p.Gln373Ter
ENST00000359593.8:c.1117C>T	ENSP00000352603.4:p.Gln373Ter
ENST00000416938.5:c.1006C>T
ENST00000421755.5:c.1117C>T	ENSP00000412185.1:p.Gln373Ter
ENST00000422582.5:c.733C>T	ENSP00000406676.1:p.Gln245Ter
ENST00000429084.5:c.1138C>T	ENSP00000403663.1:p.Gln380Ter
ENST00000438383.5:c.913C>T	ENSP00000401613.1:p.Gln305Ter
ENST00000445208.5:c.*726C>T	ENSP00000400598.1:n.*726C>T
ENST00000445295.1:c.294C>T
ENST00000445295.2:c.1117C>T	ENSP00000393723.2:p.Gln373Ter
ENST00000450807.5:c.373C>T	ENSP00000391585.1:p.Gln125Ter
ENST00000489387.1:n.407C>T
ENST00000495154.2:n.1376C>T
ENST00000713591.1:c.1117C>T	ENSP00000518888.1:p.Gln373Ter
XM_005250689.3:c.1138C>T	XP_005250746.1:p.Gln380Ter
XM_005250689.4:c.1138C>T	XP_005250746.1:p.Gln380Ter
XM_005250690.3:c.913C>T	XP_005250747.1:p.Gln305Ter
XM_005250690.4:c.913C>T	XP_005250747.1:p.Gln305Ter
XM_006716175.2:c.1138C>T	XP_006716238.1:p.Gln380Ter
XM_006716175.4:c.1138C>T	XP_006716238.1:p.Gln380Ter
XM_011516685.1:c.1138C>T	XP_011514987.1:p.Gln380Ter
XM_011516686.1:c.733C>T	XP_011514988.1:p.Gln245Ter
XM_011516687.1:c.442C>T	XP_011514989.1:p.Gln148Ter
XM_017012790.2:c.733C>T	XP_016868279.1:p.Gln245Ter
XM_017012791.2:c.442C>T	XP_016868280.1:p.Gln148Ter
XM_024446995.1:c.1117C>T	XP_024302763.1:p.Gln373Ter
XM_024446996.1:c.442C>T	XP_024302764.1:p.Gln148Ter