Canonical Allele Identifier: CA409805497
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 897923
ClinVar RCV Id: RCV001141462
dbSNP Id: rs1569014114

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891758C>G , CM000683.2:g.25891758C>G GRCh38
NC_000021.8:g.27264070C>G , CM000683.1:g.27264070C>G GRCh37
NC_000021.7:g.26185941C>G NCBI36
NG_007376.1:g.284063G>C
NG_007376.2:g.284371G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2142G>C
ENST00000707133.1:n.572G>C
ENST00000707134.1:n.841G>C
ENST00000346798.8:c.2175G>C MANE Select ENSP00000284981.4:p.Lys725Asn
ENST00000346798.7:c.2175G>C ENSP00000284981.4:p.Lys725Asn
ENST00000348990.9:c.1950G>C ENSP00000345463.5:p.Lys650Asn
ENST00000354192.7:c.1782G>C ENSP00000346129.3:p.Lys594Asn
ENST00000357903.7:c.2118G>C ENSP00000350578.3:p.Lys706Asn
ENST00000358918.7:c.2121G>C ENSP00000351796.3:p.Lys707Asn
ENST00000359726.7:c.1845G>C ENSP00000352760.4:p.Lys615Asn
ENST00000439274.6:c.2007G>C ENSP00000398879.2:p.Lys669Asn
ENST00000440126.7:c.2103G>C ENSP00000387483.2:p.Lys701Asn
ENST00000464867.1:n.522G>C
NM_000484.3:c.2175G>C NP_000475.1:p.Lys725Asn
NM_001136016.3:c.2103G>C NP_001129488.1:p.Lys701Asn
NM_001136129.2:c.1782G>C NP_001129601.1:p.Lys594Asn
NM_001136130.2:c.2007G>C NP_001129602.1:p.Lys669Asn
NM_001136131.2:c.1845G>C NP_001129603.1:p.Lys615Asn
NM_001204301.1:c.2121G>C NP_001191230.1:p.Lys707Asn
NM_001204302.1:c.2064G>C NP_001191231.1:p.Lys688Asn
NM_001204303.1:c.1896G>C NP_001191232.1:p.Lys632Asn
NM_201413.2:c.2118G>C NP_958816.1:p.Lys706Asn
NM_201414.2:c.1950G>C NP_958817.1:p.Lys650Asn
NM_000484.4:c.2175G>C MANE Select NP_000475.1:p.Lys725Asn
NM_001136129.3:c.1782G>C NP_001129601.1:p.Lys594Asn
NM_001136130.3:c.2007G>C NP_001129602.1:p.Lys669Asn
NM_001204301.2:c.2121G>C NP_001191230.1:p.Lys707Asn
NM_001204302.2:c.2064G>C NP_001191231.1:p.Lys688Asn
NM_001204303.2:c.1896G>C NP_001191232.1:p.Lys632Asn
NM_201413.3:c.2118G>C NP_958816.1:p.Lys706Asn
NM_201414.3:c.1950G>C NP_958817.1:p.Lys650Asn
NM_001136131.3:c.1845G>C NP_001129603.1:p.Lys615Asn
NM_001385253.1:c.2007G>C NP_001372182.1:p.Lys669Asn