Canonical Allele Identifier: CA368462633

Gene: AP4M1 MCM7

Linked Data

• ClinVar Variation Id: 471068
• ClinVar RCV Id: RCV000534458
• dbSNP Id: rs1554377262
• MyVariant Identifiers: chr7:g.99699397T>G (hg19) ; chr7:g.100101774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100101774T>G , CM000669.2:g.100101774T>G	GRCh38
NC_000007.13:g.99699397T>G , CM000669.1:g.99699397T>G	GRCh37
NC_000007.12:g.99537333T>G	NCBI36
NG_016312.1:g.5268T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445295.2:c.58+2T>G (AP4M1)	ENSP00000393723.2:n.58+2T>G
ENST00000489841.6:n.167A>C (MCM7)
ENST00000713591.1:c.58+2T>G (AP4M1)	ENSP00000518888.1:n.58+2T>G
ENST00000359593.9:c.58+2T>G (AP4M1) MANE Select	ENSP00000352603.4:n.58+2T>G
ENST00000303887.9:c.-480A>C (MCM7)	ENSP00000307288.5:n.-480A>C
ENST00000343023.10:c.-480A>C (MCM7)	ENSP00000344006.6:n.-480A>C
ENST00000359593.8:c.58+2T>G (AP4M1)	ENSP00000352603.4:n.58+2T>G
ENST00000394061.7:c.58+2T>G (AP4M1)	ENSP00000377625.3:n.58+2T>G
ENST00000421755.5:c.58+2T>G (AP4M1)	ENSP00000412185.1:n.58+2T>G
ENST00000429084.5:c.58+2T>G (AP4M1)	ENSP00000403663.1:n.58+2T>G
ENST00000438383.5:c.58+2T>G (AP4M1)	ENSP00000401613.1:n.58+2T>G
ENST00000439416.5:c.58+2T>G (AP4M1)	ENSP00000414286.1:n.58+2T>G
ENST00000445208.5:c.58+2T>G (AP4M1)	ENSP00000400598.1:n.58+2T>G
ENST00000446007.5:c.58+2T>G (AP4M1)	ENSP00000396928.1:n.58+2T>G
ENST00000463195.5:n.6T>G (AP4M1)
ENST00000478501.5:n.137+2T>G (AP4M1)
ENST00000621318.4:c.-1083A>C (MCM7)	ENSP00000483795.1:n.-1083A>C
NM_001278595.1:c.-1083A>C (MCM7)	NP_001265524.1:n.-1083A>C
NM_004722.3:c.58+2T>G (AP4M1)	NP_004713.2:n.58+2T>G
NM_005916.4:c.-480A>C (MCM7)	NP_005907.3:n.-480A>C
XM_005250689.3:c.58+2T>G (AP4M1)	XP_005250746.1:n.58+2T>G
XM_005250690.3:c.58+2T>G (AP4M1)	XP_005250747.1:n.58+2T>G
XM_006716175.2:c.58+2T>G (AP4M1)	XP_006716238.1:n.58+2T>G
XM_011516685.1:c.58+2T>G (AP4M1)	XP_011514987.1:n.58+2T>G
XM_011516686.1:c.-402+2T>G (AP4M1)	XP_011514988.1:n.-402+2T>G
NM_001363671.1:c.58+2T>G (AP4M1)	NP_001350600.1:n.58+2T>G
XM_005250689.4:c.58+2T>G (AP4M1)	XP_005250746.1:n.58+2T>G
XM_005250690.4:c.58+2T>G (AP4M1)	XP_005250747.1:n.58+2T>G
XM_006716175.4:c.58+2T>G (AP4M1)	XP_006716238.1:n.58+2T>G
XM_017012791.2:c.-347+2T>G (AP4M1)	XP_016868280.1:n.-347+2T>G
XM_024446995.1:c.58+2T>G (AP4M1)	XP_024302763.1:n.58+2T>G
NM_004722.4:c.58+2T>G (AP4M1) MANE Select	NP_004713.2:n.58+2T>G
NM_001363671.2:c.58+2T>G (AP4M1)	NP_001350600.1:n.58+2T>G