Canonical Allele Identifier: CA4374512

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100102747G>A , CM000669.2:g.100102747G>A	GRCh38
NC_000007.13:g.99700370G>A , CM000669.1:g.99700370G>A	GRCh37
NC_000007.12:g.99538306G>A	NCBI36
NG_016312.1:g.6241G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.220G>A MANE Select	NP_004713.2:p.Val74Ile
ENST00000359593.9:c.220G>A MANE Select	ENSP00000352603.4:p.Val74Ile
NM_001363671.1:c.241G>A	NP_001350600.1:p.Val81Ile
NM_001363671.2:c.241G>A	NP_001350600.1:p.Val81Ile
NM_004722.3:c.220G>A	NP_004713.2:p.Val74Ile
ENST00000359593.8:c.220G>A	ENSP00000352603.4:p.Val74Ile
ENST00000394061.7:c.*173G>A	ENSP00000377625.3:n.*173G>A
ENST00000416938.5:c.176G>A
ENST00000421755.5:c.220G>A	ENSP00000412185.1:p.Val74Ile
ENST00000422582.5:c.-165G>A	ENSP00000406676.1:n.-165G>A
ENST00000429084.5:c.241G>A	ENSP00000403663.1:p.Val81Ile
ENST00000438383.5:c.148-662G>A	ENSP00000401613.1:n.148-662G>A
ENST00000439416.5:c.219+1G>A	ENSP00000414286.1:n.219+1G>A
ENST00000445208.5:c.220G>A	ENSP00000400598.1:p.Val74Ile
ENST00000445295.2:c.220G>A	ENSP00000393723.2:p.Val74Ile
ENST00000446007.5:c.220G>A	ENSP00000396928.1:p.Val74Ile
ENST00000463195.5:n.294G>A
ENST00000478501.5:n.724G>A
ENST00000495154.1:n.381G>A
ENST00000495154.2:n.381G>A
ENST00000713591.1:c.220G>A	ENSP00000518888.1:p.Val74Ile
XM_005250689.3:c.241G>A	XP_005250746.1:p.Val81Ile
XM_005250689.4:c.241G>A	XP_005250746.1:p.Val81Ile
XM_005250690.3:c.148-662G>A	XP_005250747.1:n.148-662G>A
XM_005250690.4:c.148-662G>A	XP_005250747.1:n.148-662G>A
XM_006716175.2:c.241G>A	XP_006716238.1:p.Val81Ile
XM_006716175.4:c.241G>A	XP_006716238.1:p.Val81Ile
XM_011516685.1:c.241G>A	XP_011514987.1:p.Val81Ile
XM_011516686.1:c.-165G>A	XP_011514988.1:n.-165G>A
XM_011516687.1:c.-389G>A	XP_011514989.1:n.-389G>A
XM_017012790.2:c.-165G>A	XP_016868279.1:n.-165G>A
XM_017012791.2:c.-257-662G>A	XP_016868280.1:n.-257-662G>A
XM_024446995.1:c.220G>A	XP_024302763.1:p.Val74Ile
XM_024446996.1:c.-389G>A	XP_024302764.1:n.-389G>A