Canonical Allele Identifier: CA409805575
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891799T>G , CM000683.2:g.25891799T>G GRCh38
NC_000021.8:g.27264111T>G , CM000683.1:g.27264111T>G GRCh37
NC_000021.7:g.26185982T>G NCBI36
NG_007376.1:g.284022A>C
NG_007376.2:g.284330A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2101A>C
ENST00000707133.1:n.531A>C
ENST00000707134.1:n.800A>C
ENST00000346798.8:c.2134A>C MANE Select ENSP00000284981.4:p.Ile712Leu
ENST00000346798.7:c.2134A>C ENSP00000284981.4:p.Ile712Leu
ENST00000348990.9:c.1909A>C ENSP00000345463.5:p.Ile637Leu
ENST00000354192.7:c.1741A>C ENSP00000346129.3:p.Ile581Leu
ENST00000357903.7:c.2077A>C ENSP00000350578.3:p.Ile693Leu
ENST00000358918.7:c.2080A>C ENSP00000351796.3:p.Ile694Leu
ENST00000359726.7:c.1804A>C ENSP00000352760.4:p.Ile602Leu
ENST00000439274.6:c.1966A>C ENSP00000398879.2:p.Ile656Leu
ENST00000440126.7:c.2062A>C ENSP00000387483.2:p.Ile688Leu
ENST00000464867.1:n.481A>C
NM_000484.3:c.2134A>C NP_000475.1:p.Ile712Leu
NM_001136016.3:c.2062A>C NP_001129488.1:p.Ile688Leu
NM_001136129.2:c.1741A>C NP_001129601.1:p.Ile581Leu
NM_001136130.2:c.1966A>C NP_001129602.1:p.Ile656Leu
NM_001136131.2:c.1804A>C NP_001129603.1:p.Ile602Leu
NM_001204301.1:c.2080A>C NP_001191230.1:p.Ile694Leu
NM_001204302.1:c.2023A>C NP_001191231.1:p.Ile675Leu
NM_001204303.1:c.1855A>C NP_001191232.1:p.Ile619Leu
NM_201413.2:c.2077A>C NP_958816.1:p.Ile693Leu
NM_201414.2:c.1909A>C NP_958817.1:p.Ile637Leu
NM_000484.4:c.2134A>C MANE Select NP_000475.1:p.Ile712Leu
NM_001136129.3:c.1741A>C NP_001129601.1:p.Ile581Leu
NM_001136130.3:c.1966A>C NP_001129602.1:p.Ile656Leu
NM_001204301.2:c.2080A>C NP_001191230.1:p.Ile694Leu
NM_001204302.2:c.2023A>C NP_001191231.1:p.Ile675Leu
NM_001204303.2:c.1855A>C NP_001191232.1:p.Ile619Leu
NM_201413.3:c.2077A>C NP_958816.1:p.Ile693Leu
NM_201414.3:c.1909A>C NP_958817.1:p.Ile637Leu
NM_001136131.3:c.1804A>C NP_001129603.1:p.Ile602Leu
NM_001385253.1:c.1966A>C NP_001372182.1:p.Ile656Leu