Canonical Allele Identifier: CA249973

Gene: AP4M1

Linked Data

• ClinVar Variation Id: 183357
• ClinVar RCV Id: RCV000162190 ; RCV000191923 ; RCV001849324 ; RCV001529845 ; RCV003390861
• dbSNP Id: rs730882249
• ExAC: 7:99703604 C / T
• gnomAD v2: 7-99703604-C-T
• gnomAD v4: 7-100105981-C-T
• MyVariant Identifiers: chr7:g.99703604C>T (hg19) ; chr7:g.100105981C>T (hg38)
• PubMed: PMID:24700674 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100105981C>T , CM000669.2:g.100105981C>T	GRCh38
NC_000007.13:g.99703604C>T , CM000669.1:g.99703604C>T	GRCh37
NC_000007.12:g.99541540C>T	NCBI36
NG_016312.1:g.9475C>T
NG_029454.1:g.18878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.952C>T	ENSP00000393723.2:p.Arg318Ter
ENST00000495154.2:n.1211C>T
ENST00000713591.1:c.952C>T	ENSP00000518888.1:p.Arg318Ter
ENST00000359593.9:c.952C>T MANE Select	ENSP00000352603.4:p.Arg318Ter
ENST00000359593.8:c.952C>T	ENSP00000352603.4:p.Arg318Ter
ENST00000416938.5:c.841C>T
ENST00000421755.5:c.952C>T	ENSP00000412185.1:p.Arg318Ter
ENST00000422582.5:c.568C>T	ENSP00000406676.1:p.Arg190Ter
ENST00000429084.5:c.973C>T	ENSP00000403663.1:p.Arg325Ter
ENST00000438383.5:c.748C>T	ENSP00000401613.1:p.Arg250Ter
ENST00000445208.5:c.*561C>T	ENSP00000400598.1:n.*561C>T
ENST00000445295.1:c.129C>T
ENST00000446007.5:c.*174C>T	ENSP00000396928.1:n.*174C>T
ENST00000450807.5:c.208C>T	ENSP00000391585.1:p.Arg70Ter
ENST00000463195.5:n.959C>T
ENST00000489387.1:n.5C>T
NM_004722.3:c.952C>T	NP_004713.2:p.Arg318Ter
XM_005250689.3:c.973C>T	XP_005250746.1:p.Arg325Ter
XM_005250690.3:c.748C>T	XP_005250747.1:p.Arg250Ter
XM_006716175.2:c.973C>T	XP_006716238.1:p.Arg325Ter
XM_011516685.1:c.973C>T	XP_011514987.1:p.Arg325Ter
XM_011516686.1:c.568C>T	XP_011514988.1:p.Arg190Ter
XM_011516687.1:c.277C>T	XP_011514989.1:p.Arg93Ter
NM_001363671.1:c.973C>T	NP_001350600.1:p.Arg325Ter
XM_005250689.4:c.973C>T	XP_005250746.1:p.Arg325Ter
XM_005250690.4:c.748C>T	XP_005250747.1:p.Arg250Ter
XM_006716175.4:c.973C>T	XP_006716238.1:p.Arg325Ter
XM_017012790.2:c.568C>T	XP_016868279.1:p.Arg190Ter
XM_017012791.2:c.277C>T	XP_016868280.1:p.Arg93Ter
XM_024446995.1:c.952C>T	XP_024302763.1:p.Arg318Ter
XM_024446996.1:c.277C>T	XP_024302764.1:p.Arg93Ter
NM_004722.4:c.952C>T MANE Select	NP_004713.2:p.Arg318Ter
NM_001363671.2:c.973C>T	NP_001350600.1:p.Arg325Ter