Canonical Allele Identifier: CA396667241

Gene: AP1G1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71749893C>T , CM000678.2:g.71749893C>T	GRCh38
NC_000016.9:g.71783796C>T , CM000678.1:g.71783796C>T	GRCh37
NC_000016.8:g.70341297C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001128.6:c.1497+1G>A MANE Select	NP_001119.3:n.1497+1G>A
ENST00000299980.9:c.1497+1G>A MANE Select	ENSP00000299980.4:n.1497+1G>A
NM_001030007.1:c.1506+1G>A	NP_001025178.1:n.1506+1G>A
NM_001030007.2:c.1506+1G>A	NP_001025178.1:n.1506+1G>A
NM_001128.5:c.1497+1G>A	NP_001119.3:n.1497+1G>A
ENST00000299980.8:c.1497+1G>A	ENSP00000299980.4:n.1497+1G>A
ENST00000393512.7:c.1506+1G>A	ENSP00000377148.3:n.1506+1G>A
ENST00000562934.1:n.436+1G>A
ENST00000565009.5:c.*873+1G>A	ENSP00000457726.1:n.*873+1G>A
ENST00000565642.5:n.980+1G>A
ENST00000569748.5:c.1497+1G>A	ENSP00000454523.1:n.1497+1G>A