Canonical Allele Identifier: CA225514
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 98242
ClinVar RCV Id: RCV000084578
dbSNP Id: rs63750151

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891761C>G , CM000683.2:g.25891761C>G GRCh38
NC_000021.8:g.27264073C>G , CM000683.1:g.27264073C>G GRCh37
NC_000021.7:g.26185944C>G NCBI36
NG_007376.1:g.284060G>C
NG_007376.2:g.284368G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2139G>C
ENST00000707133.1:n.569G>C
ENST00000707134.1:n.838G>C
ENST00000346798.8:c.2172G>C MANE Select ENSP00000284981.4:p.Lys724Asn
ENST00000346798.7:c.2172G>C ENSP00000284981.4:p.Lys724Asn
ENST00000348990.9:c.1947G>C ENSP00000345463.5:p.Lys649Asn
ENST00000354192.7:c.1779G>C ENSP00000346129.3:p.Lys593Asn
ENST00000357903.7:c.2115G>C ENSP00000350578.3:p.Lys705Asn
ENST00000358918.7:c.2118G>C ENSP00000351796.3:p.Lys706Asn
ENST00000359726.7:c.1842G>C ENSP00000352760.4:p.Lys614Asn
ENST00000439274.6:c.2004G>C ENSP00000398879.2:p.Lys668Asn
ENST00000440126.7:c.2100G>C ENSP00000387483.2:p.Lys700Asn
ENST00000464867.1:n.519G>C
NM_000484.3:c.2172G>C NP_000475.1:p.Lys724Asn
NM_001136016.3:c.2100G>C NP_001129488.1:p.Lys700Asn
NM_001136129.2:c.1779G>C NP_001129601.1:p.Lys593Asn
NM_001136130.2:c.2004G>C NP_001129602.1:p.Lys668Asn
NM_001136131.2:c.1842G>C NP_001129603.1:p.Lys614Asn
NM_001204301.1:c.2118G>C NP_001191230.1:p.Lys706Asn
NM_001204302.1:c.2061G>C NP_001191231.1:p.Lys687Asn
NM_001204303.1:c.1893G>C NP_001191232.1:p.Lys631Asn
NM_201413.2:c.2115G>C NP_958816.1:p.Lys705Asn
NM_201414.2:c.1947G>C NP_958817.1:p.Lys649Asn
NM_000484.4:c.2172G>C MANE Select NP_000475.1:p.Lys724Asn
NM_001136129.3:c.1779G>C NP_001129601.1:p.Lys593Asn
NM_001136130.3:c.2004G>C NP_001129602.1:p.Lys668Asn
NM_001204301.2:c.2118G>C NP_001191230.1:p.Lys706Asn
NM_001204302.2:c.2061G>C NP_001191231.1:p.Lys687Asn
NM_001204303.2:c.1893G>C NP_001191232.1:p.Lys631Asn
NM_201413.3:c.2115G>C NP_958816.1:p.Lys705Asn
NM_201414.3:c.1947G>C NP_958817.1:p.Lys649Asn
NM_001136131.3:c.1842G>C NP_001129603.1:p.Lys614Asn
NM_001385253.1:c.2004G>C NP_001372182.1:p.Lys668Asn