Canonical Allele Identifier: CA4374788

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105262C>A , CM000669.2:g.100105262C>A	GRCh38
NC_000007.13:g.99702885C>A , CM000669.1:g.99702885C>A	GRCh37
NC_000007.12:g.99540821C>A	NCBI36
NG_016312.1:g.8756C>A
NG_029454.1:g.19597G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.750C>A MANE Select	NP_004713.2:p.Val250=
ENST00000359593.9:c.750C>A MANE Select	ENSP00000352603.4:p.Val250=
NM_001363671.1:c.771C>A	NP_001350600.1:p.Val257=
NM_001363671.2:c.771C>A	NP_001350600.1:p.Val257=
NM_004722.3:c.750C>A	NP_004713.2:p.Val250=
ENST00000359593.8:c.750C>A	ENSP00000352603.4:p.Val250=
ENST00000416938.5:c.639C>A
ENST00000421755.5:c.750C>A	ENSP00000412185.1:p.Val250=
ENST00000422582.5:c.366C>A	ENSP00000406676.1:p.Val122=
ENST00000429084.5:c.771C>A	ENSP00000403663.1:p.Val257=
ENST00000438383.5:c.546C>A	ENSP00000401613.1:p.Val182=
ENST00000439416.5:c.618C>A	ENSP00000414286.1:p.Val206=
ENST00000445208.5:c.*359C>A	ENSP00000400598.1:n.*359C>A
ENST00000445295.2:c.750C>A	ENSP00000393723.2:p.Val250=
ENST00000446007.5:c.629C>A	ENSP00000396928.1:p.Ser210Ter
ENST00000450807.5:c.6C>A	ENSP00000391585.1:p.Val2=
ENST00000463195.5:n.757C>A
ENST00000479916.1:n.332C>A
ENST00000495154.2:n.1009C>A
ENST00000713591.1:c.750C>A	ENSP00000518888.1:p.Val250=
XM_005250689.3:c.771C>A	XP_005250746.1:p.Val257=
XM_005250689.4:c.771C>A	XP_005250746.1:p.Val257=
XM_005250690.3:c.546C>A	XP_005250747.1:p.Val182=
XM_005250690.4:c.546C>A	XP_005250747.1:p.Val182=
XM_006716175.2:c.771C>A	XP_006716238.1:p.Val257=
XM_006716175.4:c.771C>A	XP_006716238.1:p.Val257=
XM_011516685.1:c.771C>A	XP_011514987.1:p.Val257=
XM_011516686.1:c.366C>A	XP_011514988.1:p.Val122=
XM_011516687.1:c.75C>A	XP_011514989.1:p.Val25=
XM_017012790.2:c.366C>A	XP_016868279.1:p.Val122=
XM_017012791.2:c.75C>A	XP_016868280.1:p.Val25=
XM_024446995.1:c.750C>A	XP_024302763.1:p.Val250=
XM_024446996.1:c.75C>A	XP_024302764.1:p.Val25=