Canonical Allele Identifier: CA409806440
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 899060
ClinVar RCV Id: RCV001143304
dbSNP Id: rs2038161468

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897625A>G , CM000683.2:g.25897625A>G GRCh38
NC_000021.8:g.27269937A>G , CM000683.1:g.27269937A>G GRCh37
NC_000021.7:g.26191808A>G NCBI36
NG_007376.1:g.278196T>C
NG_007376.2:g.278504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.1979T>C
ENST00000707133.1:n.409T>C
ENST00000707134.1:n.678T>C
ENST00000346798.8:c.2012T>C MANE Select ENSP00000284981.4:p.Met671Thr
ENST00000346798.7:c.2012T>C ENSP00000284981.4:p.Met671Thr
ENST00000348990.9:c.1787T>C ENSP00000345463.5:p.Met596Thr
ENST00000354192.7:c.1619T>C ENSP00000346129.3:p.Met540Thr
ENST00000357903.7:c.1955T>C ENSP00000350578.3:p.Met652Thr
ENST00000358918.7:c.1958T>C ENSP00000351796.3:p.Met653Thr
ENST00000359726.7:c.1682T>C ENSP00000352760.4:p.Met561Thr
ENST00000439274.6:c.1844T>C ENSP00000398879.2:p.Met615Thr
ENST00000440126.7:c.1940T>C ENSP00000387483.2:p.Met647Thr
ENST00000464867.1:n.359T>C
NM_000484.3:c.2012T>C NP_000475.1:p.Met671Thr
NM_001136016.3:c.1940T>C NP_001129488.1:p.Met647Thr
NM_001136129.2:c.1619T>C NP_001129601.1:p.Met540Thr
NM_001136130.2:c.1844T>C NP_001129602.1:p.Met615Thr
NM_001136131.2:c.1682T>C NP_001129603.1:p.Met561Thr
NM_001204301.1:c.1958T>C NP_001191230.1:p.Met653Thr
NM_001204302.1:c.1901T>C NP_001191231.1:p.Met634Thr
NM_001204303.1:c.1733T>C NP_001191232.1:p.Met578Thr
NM_201413.2:c.1955T>C NP_958816.1:p.Met652Thr
NM_201414.2:c.1787T>C NP_958817.1:p.Met596Thr
NM_000484.4:c.2012T>C MANE Select NP_000475.1:p.Met671Thr
NM_001136129.3:c.1619T>C NP_001129601.1:p.Met540Thr
NM_001136130.3:c.1844T>C NP_001129602.1:p.Met615Thr
NM_001204301.2:c.1958T>C NP_001191230.1:p.Met653Thr
NM_001204302.2:c.1901T>C NP_001191231.1:p.Met634Thr
NM_001204303.2:c.1733T>C NP_001191232.1:p.Met578Thr
NM_201413.3:c.1955T>C NP_958816.1:p.Met652Thr
NM_201414.3:c.1787T>C NP_958817.1:p.Met596Thr
NM_001136131.3:c.1682T>C NP_001129603.1:p.Met561Thr
NM_001385253.1:c.1844T>C NP_001372182.1:p.Met615Thr