Canonical Allele Identifier: CA127804

Gene: APP

Linked Data

• ClinVar Variation Id: 18101
• ClinVar RCV Id: RCV000019729 ; RCV000084564 ; RCV000687111
• dbSNP Id: rs63749810
• gnomAD v4: 21-25891853-C-T
• MyVariant Identifiers: chr21:g.27264165C>T (hg19) ; chr21:g.25891853C>T (hg38)
• PubMed: PMID:11409420 ; PMID:12654973

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891853C>T , CM000683.2:g.25891853C>T	GRCh38
NC_000021.8:g.27264165C>T , CM000683.1:g.27264165C>T	GRCh37
NC_000021.7:g.26186036C>T	NCBI36
NG_007376.1:g.283968G>A
NG_007376.2:g.284276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2047G>A
ENST00000707133.1:n.477G>A
ENST00000707134.1:n.746G>A
ENST00000346798.8:c.2080G>A MANE Select	ENSP00000284981.4:p.Asp694Asn
ENST00000346798.7:c.2080G>A	ENSP00000284981.4:p.Asp694Asn
ENST00000348990.9:c.1855G>A	ENSP00000345463.5:p.Asp619Asn
ENST00000354192.7:c.1687G>A	ENSP00000346129.3:p.Asp563Asn
ENST00000357903.7:c.2023G>A	ENSP00000350578.3:p.Asp675Asn
ENST00000358918.7:c.2026G>A	ENSP00000351796.3:p.Asp676Asn
ENST00000359726.7:c.1750G>A	ENSP00000352760.4:p.Asp584Asn
ENST00000439274.6:c.1912G>A	ENSP00000398879.2:p.Asp638Asn
ENST00000440126.7:c.2008G>A	ENSP00000387483.2:p.Asp670Asn
ENST00000464867.1:n.427G>A
NM_000484.3:c.2080G>A	NP_000475.1:p.Asp694Asn
NM_001136016.3:c.2008G>A	NP_001129488.1:p.Asp670Asn
NM_001136129.2:c.1687G>A	NP_001129601.1:p.Asp563Asn
NM_001136130.2:c.1912G>A	NP_001129602.1:p.Asp638Asn
NM_001136131.2:c.1750G>A	NP_001129603.1:p.Asp584Asn
NM_001204301.1:c.2026G>A	NP_001191230.1:p.Asp676Asn
NM_001204302.1:c.1969G>A	NP_001191231.1:p.Asp657Asn
NM_001204303.1:c.1801G>A	NP_001191232.1:p.Asp601Asn
NM_201413.2:c.2023G>A	NP_958816.1:p.Asp675Asn
NM_201414.2:c.1855G>A	NP_958817.1:p.Asp619Asn
NM_000484.4:c.2080G>A MANE Select	NP_000475.1:p.Asp694Asn
NM_001136129.3:c.1687G>A	NP_001129601.1:p.Asp563Asn
NM_001136130.3:c.1912G>A	NP_001129602.1:p.Asp638Asn
NM_001204301.2:c.2026G>A	NP_001191230.1:p.Asp676Asn
NM_001204302.2:c.1969G>A	NP_001191231.1:p.Asp657Asn
NM_001204303.2:c.1801G>A	NP_001191232.1:p.Asp601Asn
NM_201413.3:c.2023G>A	NP_958816.1:p.Asp675Asn
NM_201414.3:c.1855G>A	NP_958817.1:p.Asp619Asn
NM_001136131.3:c.1750G>A	NP_001129603.1:p.Asp584Asn
NM_001385253.1:c.1912G>A	NP_001372182.1:p.Asp638Asn