Canonical Allele Identifier: CA368476878

Gene: AP4M1

Linked Data

• dbSNP Id: rs778934013
• gnomAD v4: 7-100106747-C-G
• MyVariant Identifiers: chr7:g.99704370C>G (hg19) ; chr7:g.100106747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100106747C>G , CM000669.2:g.100106747C>G	GRCh38
NC_000007.13:g.99704370C>G , CM000669.1:g.99704370C>G	GRCh37
NC_000007.12:g.99542306C>G	NCBI36
NG_016312.1:g.10241C>G
NG_029454.1:g.18112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.1138-34C>G	ENSP00000393723.2:n.1138-34C>G
ENST00000495154.2:n.1486C>G
ENST00000713591.1:c.1227C>G	ENSP00000518888.1:p.Phe409Leu
ENST00000359593.9:c.1227C>G MANE Select	ENSP00000352603.4:p.Phe409Leu
ENST00000359593.8:c.1227C>G	ENSP00000352603.4:p.Phe409Leu
ENST00000416938.5:c.1116C>G
ENST00000421755.5:c.1227C>G	ENSP00000412185.1:p.Phe409Leu
ENST00000422582.5:c.843C>G	ENSP00000406676.1:p.Phe281Leu
ENST00000429084.5:c.1248C>G	ENSP00000403663.1:p.Phe416Leu
ENST00000445208.5:c.*836C>G	ENSP00000400598.1:n.*836C>G
ENST00000445295.1:c.315-34C>G
ENST00000450807.5:c.393+233C>G	ENSP00000391585.1:n.393+233C>G
ENST00000489387.1:n.517C>G
NM_004722.3:c.1227C>G	NP_004713.2:p.Phe409Leu
XM_005250689.3:c.1248C>G	XP_005250746.1:p.Phe416Leu
XM_005250690.3:c.1023C>G	XP_005250747.1:p.Phe341Leu
XM_006716175.2:c.1159-34C>G	XP_006716238.1:n.1159-34C>G
XM_011516685.1:c.1248C>G	XP_011514987.1:p.Phe416Leu
XM_011516686.1:c.843C>G	XP_011514988.1:p.Phe281Leu
XM_011516687.1:c.552C>G	XP_011514989.1:p.Phe184Leu
NM_001363671.1:c.1248C>G	NP_001350600.1:p.Phe416Leu
XM_005250689.4:c.1248C>G	XP_005250746.1:p.Phe416Leu
XM_005250690.4:c.1023C>G	XP_005250747.1:p.Phe341Leu
XM_006716175.4:c.1159-34C>G	XP_006716238.1:n.1159-34C>G
XM_017012790.2:c.754-34C>G	XP_016868279.1:n.754-34C>G
XM_017012791.2:c.552C>G	XP_016868280.1:p.Phe184Leu
XM_024446995.1:c.1138-34C>G	XP_024302763.1:n.1138-34C>G
XM_024446996.1:c.552C>G	XP_024302764.1:p.Phe184Leu
NM_004722.4:c.1227C>G MANE Select	NP_004713.2:p.Phe409Leu
NM_001363671.2:c.1248C>G	NP_001350600.1:p.Phe416Leu