Canonical Allele Identifier: CA163217948

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105068G>T , CM000669.2:g.100105068G>T	GRCh38
NC_000007.13:g.99702691G>T , CM000669.1:g.99702691G>T	GRCh37
NC_000007.12:g.99540627G>T	NCBI36
NG_016312.1:g.8562G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.697G>T MANE Select	NP_004713.2:p.Glu233Ter
ENST00000359593.9:c.697G>T MANE Select	ENSP00000352603.4:p.Glu233Ter
NM_001363671.1:c.718G>T	NP_001350600.1:p.Glu240Ter
NM_001363671.2:c.718G>T	NP_001350600.1:p.Glu240Ter
NM_004722.3:c.697G>T	NP_004713.2:p.Glu233Ter
ENST00000359593.8:c.697G>T	ENSP00000352603.4:p.Glu233Ter
ENST00000416938.5:c.586G>T
ENST00000421755.5:c.697G>T	ENSP00000412185.1:p.Glu233Ter
ENST00000422582.5:c.313G>T	ENSP00000406676.1:p.Glu105Ter
ENST00000429084.5:c.718G>T	ENSP00000403663.1:p.Glu240Ter
ENST00000438383.5:c.493G>T	ENSP00000401613.1:p.Glu165Ter
ENST00000439416.5:c.565G>T	ENSP00000414286.1:p.Glu189Ter
ENST00000445208.5:c.*306G>T	ENSP00000400598.1:n.*306G>T
ENST00000445295.2:c.697G>T	ENSP00000393723.2:p.Glu233Ter
ENST00000446007.5:c.607-172G>T	ENSP00000396928.1:n.607-172G>T
ENST00000463195.5:n.704G>T
ENST00000479916.1:n.279G>T
ENST00000495154.2:n.956G>T
ENST00000713591.1:c.697G>T	ENSP00000518888.1:p.Glu233Ter
XM_005250689.3:c.718G>T	XP_005250746.1:p.Glu240Ter
XM_005250689.4:c.718G>T	XP_005250746.1:p.Glu240Ter
XM_005250690.3:c.493G>T	XP_005250747.1:p.Glu165Ter
XM_005250690.4:c.493G>T	XP_005250747.1:p.Glu165Ter
XM_006716175.2:c.718G>T	XP_006716238.1:p.Glu240Ter
XM_006716175.4:c.718G>T	XP_006716238.1:p.Glu240Ter
XM_011516685.1:c.718G>T	XP_011514987.1:p.Glu240Ter
XM_011516686.1:c.313G>T	XP_011514988.1:p.Glu105Ter
XM_011516687.1:c.22G>T	XP_011514989.1:p.Glu8Ter
XM_017012790.2:c.313G>T	XP_016868279.1:p.Glu105Ter
XM_017012791.2:c.22G>T	XP_016868280.1:p.Glu8Ter
XM_024446995.1:c.697G>T	XP_024302763.1:p.Glu233Ter
XM_024446996.1:c.22G>T	XP_024302764.1:p.Glu8Ter