Canonical Allele Identifier: CA163219029

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105958G>C , CM000669.2:g.100105958G>C	GRCh38
NC_000007.13:g.99703581G>C , CM000669.1:g.99703581G>C	GRCh37
NC_000007.12:g.99541517G>C	NCBI36
NG_016312.1:g.9452G>C
NG_029454.1:g.18901C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.930-1G>C MANE Select	NP_004713.2:n.930-1G>C
ENST00000359593.9:c.930-1G>C MANE Select	ENSP00000352603.4:n.930-1G>C
NM_001363671.1:c.951-1G>C	NP_001350600.1:n.951-1G>C
NM_001363671.2:c.951-1G>C	NP_001350600.1:n.951-1G>C
NM_004722.3:c.930-1G>C	NP_004713.2:n.930-1G>C
ENST00000359593.8:c.930-1G>C	ENSP00000352603.4:n.930-1G>C
ENST00000416938.5:c.819-1G>C
ENST00000421755.5:c.930-1G>C	ENSP00000412185.1:n.930-1G>C
ENST00000422582.5:c.546-1G>C	ENSP00000406676.1:n.546-1G>C
ENST00000429084.5:c.951-1G>C	ENSP00000403663.1:n.951-1G>C
ENST00000438383.5:c.726-1G>C	ENSP00000401613.1:n.726-1G>C
ENST00000445208.5:c.*539-1G>C	ENSP00000400598.1:n.*539-1G>C
ENST00000445295.1:c.107-1G>C
ENST00000445295.2:c.930-1G>C	ENSP00000393723.2:n.930-1G>C
ENST00000446007.5:c.*152-1G>C	ENSP00000396928.1:n.*152-1G>C
ENST00000450807.5:c.186-1G>C	ENSP00000391585.1:n.186-1G>C
ENST00000463195.5:n.937-1G>C
ENST00000495154.2:n.1189-1G>C
ENST00000713591.1:c.930-1G>C	ENSP00000518888.1:n.930-1G>C
XM_005250689.3:c.951-1G>C	XP_005250746.1:n.951-1G>C
XM_005250689.4:c.951-1G>C	XP_005250746.1:n.951-1G>C
XM_005250690.3:c.726-1G>C	XP_005250747.1:n.726-1G>C
XM_005250690.4:c.726-1G>C	XP_005250747.1:n.726-1G>C
XM_006716175.2:c.951-1G>C	XP_006716238.1:n.951-1G>C
XM_006716175.4:c.951-1G>C	XP_006716238.1:n.951-1G>C
XM_011516685.1:c.951-1G>C	XP_011514987.1:n.951-1G>C
XM_011516686.1:c.546-1G>C	XP_011514988.1:n.546-1G>C
XM_011516687.1:c.255-1G>C	XP_011514989.1:n.255-1G>C
XM_017012790.2:c.546-1G>C	XP_016868279.1:n.546-1G>C
XM_017012791.2:c.255-1G>C	XP_016868280.1:n.255-1G>C
XM_024446995.1:c.930-1G>C	XP_024302763.1:n.930-1G>C
XM_024446996.1:c.255-1G>C	XP_024302764.1:n.255-1G>C