Canonical Allele Identifier: CA409805549
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891781T>C , CM000683.2:g.25891781T>C GRCh38
NC_000021.8:g.27264093T>C , CM000683.1:g.27264093T>C GRCh37
NC_000021.7:g.26185964T>C NCBI36
NG_007376.1:g.284040A>G
NG_007376.2:g.284348A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2152A>G MANE Select ENSP00000284981.4:p.Ile718Val
ENST00000346798.7:c.2152A>G ENSP00000284981.4:p.Ile718Val
ENST00000348990.9:c.1927A>G ENSP00000345463.5:p.Ile643Val
ENST00000354192.7:c.1759A>G ENSP00000346129.3:p.Ile587Val
ENST00000357903.7:c.2095A>G ENSP00000350578.3:p.Ile699Val
ENST00000358918.7:c.2098A>G ENSP00000351796.3:p.Ile700Val
ENST00000359726.7:c.1822A>G ENSP00000352760.4:p.Ile608Val
ENST00000439274.6:c.1984A>G ENSP00000398879.2:p.Ile662Val
ENST00000440126.7:c.2080A>G ENSP00000387483.2:p.Ile694Val
ENST00000464867.1:n.499A>G
NM_000484.3:c.2152A>G NP_000475.1:p.Ile718Val
NM_001136016.3:c.2080A>G NP_001129488.1:p.Ile694Val
NM_001136129.2:c.1759A>G NP_001129601.1:p.Ile587Val
NM_001136130.2:c.1984A>G NP_001129602.1:p.Ile662Val
NM_001136131.2:c.1822A>G NP_001129603.1:p.Ile608Val
NM_001204301.1:c.2098A>G NP_001191230.1:p.Ile700Val
NM_001204302.1:c.2041A>G NP_001191231.1:p.Ile681Val
NM_001204303.1:c.1873A>G NP_001191232.1:p.Ile625Val
NM_201413.2:c.2095A>G NP_958816.1:p.Ile699Val
NM_201414.2:c.1927A>G NP_958817.1:p.Ile643Val
NM_000484.4:c.2152A>G MANE Select NP_000475.1:p.Ile718Val
NM_001136129.3:c.1759A>G NP_001129601.1:p.Ile587Val
NM_001136130.3:c.1984A>G NP_001129602.1:p.Ile662Val
NM_001204301.2:c.2098A>G NP_001191230.1:p.Ile700Val
NM_001204302.2:c.2041A>G NP_001191231.1:p.Ile681Val
NM_001204303.2:c.1873A>G NP_001191232.1:p.Ile625Val
NM_201413.3:c.2095A>G NP_958816.1:p.Ile699Val
NM_201414.3:c.1927A>G NP_958817.1:p.Ile643Val
NM_001136131.3:c.1822A>G NP_001129603.1:p.Ile608Val
NM_001385253.1:c.1984A>G NP_001372182.1:p.Ile662Val