Canonical Allele Identifier: CA368466570
Gene: AP4M1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100102942A>T , CM000669.2:g.100102942A>T GRCh38
NC_000007.13:g.99700565A>T , CM000669.1:g.99700565A>T GRCh37
NC_000007.12:g.99538501A>T NCBI36
NG_016312.1:g.6436A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000445295.2:c.333A>T ENSP00000393723.2:p.Glu111Asp
ENST00000495154.2:n.494A>T
ENST00000713591.1:c.333A>T ENSP00000518888.1:p.Glu111Asp
ENST00000359593.9:c.333A>T MANE Select ENSP00000352603.4:p.Glu111Asp
ENST00000359593.8:c.333A>T ENSP00000352603.4:p.Glu111Asp
ENST00000394061.7:c.*286A>T ENSP00000377625.3:n.*286A>T
ENST00000416938.5:c.289A>T
ENST00000421755.5:c.333A>T ENSP00000412185.1:p.Glu111Asp
ENST00000422582.5:c.-52A>T ENSP00000406676.1:n.-52A>T
ENST00000429084.5:c.354A>T ENSP00000403663.1:p.Glu118Asp
ENST00000438383.5:c.148-467A>T ENSP00000401613.1:n.148-467A>T
ENST00000439416.5:c.219+196A>T ENSP00000414286.1:n.219+196A>T
ENST00000445208.5:c.254+161A>T ENSP00000400598.1:n.254+161A>T
ENST00000446007.5:c.333A>T ENSP00000396928.1:p.Glu111Asp
ENST00000463195.5:n.407A>T
ENST00000478501.5:n.837A>T
ENST00000495154.1:n.494A>T
NM_004722.3:c.333A>T NP_004713.2:p.Glu111Asp
XM_005250689.3:c.354A>T XP_005250746.1:p.Glu118Asp
XM_005250690.3:c.148-467A>T XP_005250747.1:n.148-467A>T
XM_006716175.2:c.354A>T XP_006716238.1:p.Glu118Asp
XM_011516685.1:c.354A>T XP_011514987.1:p.Glu118Asp
XM_011516686.1:c.-52A>T XP_011514988.1:n.-52A>T
XM_011516687.1:c.-276A>T XP_011514989.1:n.-276A>T
NM_001363671.1:c.354A>T NP_001350600.1:p.Glu118Asp
XM_005250689.4:c.354A>T XP_005250746.1:p.Glu118Asp
XM_005250690.4:c.148-467A>T XP_005250747.1:n.148-467A>T
XM_006716175.4:c.354A>T XP_006716238.1:p.Glu118Asp
XM_017012790.2:c.-52A>T XP_016868279.1:n.-52A>T
XM_017012791.2:c.-257-467A>T XP_016868280.1:n.-257-467A>T
XM_024446995.1:c.333A>T XP_024302763.1:p.Glu111Asp
XM_024446996.1:c.-276A>T XP_024302764.1:n.-276A>T
NM_004722.4:c.333A>T MANE Select NP_004713.2:p.Glu111Asp
NM_001363671.2:c.354A>T NP_001350600.1:p.Glu118Asp