Canonical Allele Identifier: CA409805701
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs2037720158

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891862A>G , CM000683.2:g.25891862A>G GRCh38
NC_000021.8:g.27264174A>G , CM000683.1:g.27264174A>G GRCh37
NC_000021.7:g.26186045A>G NCBI36
NG_007376.1:g.283959T>C
NG_007376.2:g.284267T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2038T>C
ENST00000707133.1:n.468T>C
ENST00000707134.1:n.737T>C
ENST00000346798.8:c.2071T>C MANE Select ENSP00000284981.4:p.Phe691Leu
ENST00000346798.7:c.2071T>C ENSP00000284981.4:p.Phe691Leu
ENST00000348990.9:c.1846T>C ENSP00000345463.5:p.Phe616Leu
ENST00000354192.7:c.1678T>C ENSP00000346129.3:p.Phe560Leu
ENST00000357903.7:c.2014T>C ENSP00000350578.3:p.Phe672Leu
ENST00000358918.7:c.2017T>C ENSP00000351796.3:p.Phe673Leu
ENST00000359726.7:c.1741T>C ENSP00000352760.4:p.Phe581Leu
ENST00000439274.6:c.1903T>C ENSP00000398879.2:p.Phe635Leu
ENST00000440126.7:c.1999T>C ENSP00000387483.2:p.Phe667Leu
ENST00000464867.1:n.418T>C
NM_000484.3:c.2071T>C NP_000475.1:p.Phe691Leu
NM_001136016.3:c.1999T>C NP_001129488.1:p.Phe667Leu
NM_001136129.2:c.1678T>C NP_001129601.1:p.Phe560Leu
NM_001136130.2:c.1903T>C NP_001129602.1:p.Phe635Leu
NM_001136131.2:c.1741T>C NP_001129603.1:p.Phe581Leu
NM_001204301.1:c.2017T>C NP_001191230.1:p.Phe673Leu
NM_001204302.1:c.1960T>C NP_001191231.1:p.Phe654Leu
NM_001204303.1:c.1792T>C NP_001191232.1:p.Phe598Leu
NM_201413.2:c.2014T>C NP_958816.1:p.Phe672Leu
NM_201414.2:c.1846T>C NP_958817.1:p.Phe616Leu
NM_000484.4:c.2071T>C MANE Select NP_000475.1:p.Phe691Leu
NM_001136129.3:c.1678T>C NP_001129601.1:p.Phe560Leu
NM_001136130.3:c.1903T>C NP_001129602.1:p.Phe635Leu
NM_001204301.2:c.2017T>C NP_001191230.1:p.Phe673Leu
NM_001204302.2:c.1960T>C NP_001191231.1:p.Phe654Leu
NM_001204303.2:c.1792T>C NP_001191232.1:p.Phe598Leu
NM_201413.3:c.2014T>C NP_958816.1:p.Phe672Leu
NM_201414.3:c.1846T>C NP_958817.1:p.Phe616Leu
NM_001136131.3:c.1741T>C NP_001129603.1:p.Phe581Leu
NM_001385253.1:c.1903T>C NP_001372182.1:p.Phe635Leu