Canonical Allele Identifier: CA4374445

Gene: AP4M1

Linked Data

• ClinVar Variation Id: 471065
• ClinVar RCV Id: RCV000529550 ; RCV003278904
• dbSNP Id: rs760835879
• ExAC: 7:99699573 C / A
• gnomAD v2: 7-99699573-C-A
• gnomAD v3: 7-100101950-C-A
• gnomAD v4: 7-100101950-C-A
• MyVariant Identifiers: chr7:g.99699573C>A (hg19) ; chr7:g.100101950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100101950C>A , CM000669.2:g.100101950C>A	GRCh38
NC_000007.13:g.99699573C>A , CM000669.1:g.99699573C>A	GRCh37
NC_000007.12:g.99537509C>A	NCBI36
NG_016312.1:g.5444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.129C>A	ENSP00000393723.2:p.Asp43Glu
ENST00000713591.1:c.129C>A	ENSP00000518888.1:p.Asp43Glu
ENST00000359593.9:c.129C>A MANE Select	ENSP00000352603.4:p.Asp43Glu
ENST00000359593.8:c.129C>A	ENSP00000352603.4:p.Asp43Glu
ENST00000394061.7:c.129C>A	ENSP00000377625.3:p.Asp43Glu
ENST00000416938.5:c.85C>A
ENST00000421755.5:c.129C>A	ENSP00000412185.1:p.Asp43Glu
ENST00000429084.5:c.129C>A	ENSP00000403663.1:p.Asp43Glu
ENST00000438383.5:c.129C>A	ENSP00000401613.1:p.Asp43Glu
ENST00000439416.5:c.129C>A	ENSP00000414286.1:p.Asp43Glu
ENST00000445208.5:c.129C>A	ENSP00000400598.1:p.Asp43Glu
ENST00000446007.5:c.129C>A	ENSP00000396928.1:p.Asp43Glu
ENST00000463195.5:n.182C>A
ENST00000478501.5:n.208C>A
NM_004722.3:c.129C>A	NP_004713.2:p.Asp43Glu
XM_005250689.3:c.129C>A	XP_005250746.1:p.Asp43Glu
XM_005250690.3:c.129C>A	XP_005250747.1:p.Asp43Glu
XM_006716175.2:c.129C>A	XP_006716238.1:p.Asp43Glu
XM_011516685.1:c.129C>A	XP_011514987.1:p.Asp43Glu
XM_011516686.1:c.-331C>A	XP_011514988.1:n.-331C>A
NM_001363671.1:c.129C>A	NP_001350600.1:p.Asp43Glu
XM_005250689.4:c.129C>A	XP_005250746.1:p.Asp43Glu
XM_005250690.4:c.129C>A	XP_005250747.1:p.Asp43Glu
XM_006716175.4:c.129C>A	XP_006716238.1:p.Asp43Glu
XM_017012791.2:c.-276C>A	XP_016868280.1:n.-276C>A
XM_024446995.1:c.129C>A	XP_024302763.1:p.Asp43Glu
NM_004722.4:c.129C>A MANE Select	NP_004713.2:p.Asp43Glu
NM_001363671.2:c.129C>A	NP_001350600.1:p.Asp43Glu