Canonical Allele Identifier: CA368468589

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100104095C>T , CM000669.2:g.100104095C>T	GRCh38
NC_000007.13:g.99701718C>T , CM000669.1:g.99701718C>T	GRCh37
NC_000007.12:g.99539654C>T	NCBI36
NG_016312.1:g.7589C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.547C>T MANE Select	NP_004713.2:p.Gln183Ter
ENST00000359593.9:c.547C>T MANE Select	ENSP00000352603.4:p.Gln183Ter
NM_001363671.1:c.568C>T	NP_001350600.1:p.Gln190Ter
NM_001363671.2:c.568C>T	NP_001350600.1:p.Gln190Ter
NM_004722.3:c.547C>T	NP_004713.2:p.Gln183Ter
ENST00000359593.8:c.547C>T	ENSP00000352603.4:p.Gln183Ter
ENST00000416938.5:c.503C>T
ENST00000421755.5:c.547C>T	ENSP00000412185.1:p.Gln183Ter
ENST00000422582.5:c.163C>T	ENSP00000406676.1:p.Gln55Ter
ENST00000429084.5:c.568C>T	ENSP00000403663.1:p.Gln190Ter
ENST00000438383.5:c.343C>T	ENSP00000401613.1:p.Gln115Ter
ENST00000439416.5:c.415C>T	ENSP00000414286.1:p.Gln139Ter
ENST00000445208.5:c.*156C>T	ENSP00000400598.1:n.*156C>T
ENST00000445295.2:c.547C>T	ENSP00000393723.2:p.Gln183Ter
ENST00000446007.5:c.547C>T	ENSP00000396928.1:p.Gln183Ter
ENST00000463195.5:n.621C>T
ENST00000479916.1:n.129C>T
ENST00000495154.2:n.806C>T
ENST00000713591.1:c.547C>T	ENSP00000518888.1:p.Gln183Ter
XM_005250689.3:c.568C>T	XP_005250746.1:p.Gln190Ter
XM_005250689.4:c.568C>T	XP_005250746.1:p.Gln190Ter
XM_005250690.3:c.343C>T	XP_005250747.1:p.Gln115Ter
XM_005250690.4:c.343C>T	XP_005250747.1:p.Gln115Ter
XM_006716175.2:c.568C>T	XP_006716238.1:p.Gln190Ter
XM_006716175.4:c.568C>T	XP_006716238.1:p.Gln190Ter
XM_011516685.1:c.568C>T	XP_011514987.1:p.Gln190Ter
XM_011516686.1:c.163C>T	XP_011514988.1:p.Gln55Ter
XM_011516687.1:c.-62C>T	XP_011514989.1:n.-62C>T
XM_017012790.2:c.163C>T	XP_016868279.1:p.Gln55Ter
XM_017012791.2:c.-62C>T	XP_016868280.1:n.-62C>T
XM_024446995.1:c.547C>T	XP_024302763.1:p.Gln183Ter
XM_024446996.1:c.-62C>T	XP_024302764.1:n.-62C>T