Canonical Allele Identifier: CA4374783

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105252G>C , CM000669.2:g.100105252G>C	GRCh38
NC_000007.13:g.99702875G>C , CM000669.1:g.99702875G>C	GRCh37
NC_000007.12:g.99540811G>C	NCBI36
NG_016312.1:g.8746G>C
NG_029454.1:g.19607C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.740G>C MANE Select	NP_004713.2:p.Gly247Ala
ENST00000359593.9:c.740G>C MANE Select	ENSP00000352603.4:p.Gly247Ala
NM_001363671.1:c.761G>C	NP_001350600.1:p.Gly254Ala
NM_001363671.2:c.761G>C	NP_001350600.1:p.Gly254Ala
NM_004722.3:c.740G>C	NP_004713.2:p.Gly247Ala
ENST00000359593.8:c.740G>C	ENSP00000352603.4:p.Gly247Ala
ENST00000416938.5:c.629G>C
ENST00000421755.5:c.740G>C	ENSP00000412185.1:p.Gly247Ala
ENST00000422582.5:c.356G>C	ENSP00000406676.1:p.Gly119Ala
ENST00000429084.5:c.761G>C	ENSP00000403663.1:p.Gly254Ala
ENST00000438383.5:c.536G>C	ENSP00000401613.1:p.Gly179Ala
ENST00000439416.5:c.608G>C	ENSP00000414286.1:p.Gly203Ala
ENST00000445208.5:c.*349G>C	ENSP00000400598.1:n.*349G>C
ENST00000445295.2:c.740G>C	ENSP00000393723.2:p.Gly247Ala
ENST00000446007.5:c.619G>C	ENSP00000396928.1:p.Glu207Gln
ENST00000463195.5:n.747G>C
ENST00000479916.1:n.322G>C
ENST00000495154.2:n.999G>C
ENST00000713591.1:c.740G>C	ENSP00000518888.1:p.Gly247Ala
XM_005250689.3:c.761G>C	XP_005250746.1:p.Gly254Ala
XM_005250689.4:c.761G>C	XP_005250746.1:p.Gly254Ala
XM_005250690.3:c.536G>C	XP_005250747.1:p.Gly179Ala
XM_005250690.4:c.536G>C	XP_005250747.1:p.Gly179Ala
XM_006716175.2:c.761G>C	XP_006716238.1:p.Gly254Ala
XM_006716175.4:c.761G>C	XP_006716238.1:p.Gly254Ala
XM_011516685.1:c.761G>C	XP_011514987.1:p.Gly254Ala
XM_011516686.1:c.356G>C	XP_011514988.1:p.Gly119Ala
XM_011516687.1:c.65G>C	XP_011514989.1:p.Gly22Ala
XM_017012790.2:c.356G>C	XP_016868279.1:p.Gly119Ala
XM_017012791.2:c.65G>C	XP_016868280.1:p.Gly22Ala
XM_024446995.1:c.740G>C	XP_024302763.1:p.Gly247Ala
XM_024446996.1:c.65G>C	XP_024302764.1:p.Gly22Ala