Canonical Allele Identifier: CA409805679

Gene: APP

Linked Data

• gnomAD v4: 21-25891851-A-C
• MyVariant Identifiers: chr21:g.27264163A>C (hg19) ; chr21:g.25891851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891851A>C , CM000683.2:g.25891851A>C	GRCh38
NC_000021.8:g.27264163A>C , CM000683.1:g.27264163A>C	GRCh37
NC_000021.7:g.26186034A>C	NCBI36
NG_007376.1:g.283970T>G
NG_007376.2:g.284278T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2049T>G
ENST00000707133.1:n.479T>G
ENST00000707134.1:n.748T>G
ENST00000346798.8:c.2082T>G MANE Select	ENSP00000284981.4:p.Asp694Glu
ENST00000346798.7:c.2082T>G	ENSP00000284981.4:p.Asp694Glu
ENST00000348990.9:c.1857T>G	ENSP00000345463.5:p.Asp619Glu
ENST00000354192.7:c.1689T>G	ENSP00000346129.3:p.Asp563Glu
ENST00000357903.7:c.2025T>G	ENSP00000350578.3:p.Asp675Glu
ENST00000358918.7:c.2028T>G	ENSP00000351796.3:p.Asp676Glu
ENST00000359726.7:c.1752T>G	ENSP00000352760.4:p.Asp584Glu
ENST00000439274.6:c.1914T>G	ENSP00000398879.2:p.Asp638Glu
ENST00000440126.7:c.2010T>G	ENSP00000387483.2:p.Asp670Glu
ENST00000464867.1:n.429T>G
NM_000484.3:c.2082T>G	NP_000475.1:p.Asp694Glu
NM_001136016.3:c.2010T>G	NP_001129488.1:p.Asp670Glu
NM_001136129.2:c.1689T>G	NP_001129601.1:p.Asp563Glu
NM_001136130.2:c.1914T>G	NP_001129602.1:p.Asp638Glu
NM_001136131.2:c.1752T>G	NP_001129603.1:p.Asp584Glu
NM_001204301.1:c.2028T>G	NP_001191230.1:p.Asp676Glu
NM_001204302.1:c.1971T>G	NP_001191231.1:p.Asp657Glu
NM_001204303.1:c.1803T>G	NP_001191232.1:p.Asp601Glu
NM_201413.2:c.2025T>G	NP_958816.1:p.Asp675Glu
NM_201414.2:c.1857T>G	NP_958817.1:p.Asp619Glu
NM_000484.4:c.2082T>G MANE Select	NP_000475.1:p.Asp694Glu
NM_001136129.3:c.1689T>G	NP_001129601.1:p.Asp563Glu
NM_001136130.3:c.1914T>G	NP_001129602.1:p.Asp638Glu
NM_001204301.2:c.2028T>G	NP_001191230.1:p.Asp676Glu
NM_001204302.2:c.1971T>G	NP_001191231.1:p.Asp657Glu
NM_001204303.2:c.1803T>G	NP_001191232.1:p.Asp601Glu
NM_201413.3:c.2025T>G	NP_958816.1:p.Asp675Glu
NM_201414.3:c.1857T>G	NP_958817.1:p.Asp619Glu
NM_001136131.3:c.1752T>G	NP_001129603.1:p.Asp584Glu
NM_001385253.1:c.1914T>G	NP_001372182.1:p.Asp638Glu