Canonical Allele Identifier: CA409805523
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891769T>G , CM000683.2:g.25891769T>G GRCh38
NC_000021.8:g.27264081T>G , CM000683.1:g.27264081T>G GRCh37
NC_000021.7:g.26185952T>G NCBI36
NG_007376.1:g.284052A>C
NG_007376.2:g.284360A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2164A>C MANE Select ENSP00000284981.4:p.Met722Leu
ENST00000346798.7:c.2164A>C ENSP00000284981.4:p.Met722Leu
ENST00000348990.9:c.1939A>C ENSP00000345463.5:p.Met647Leu
ENST00000354192.7:c.1771A>C ENSP00000346129.3:p.Met591Leu
ENST00000357903.7:c.2107A>C ENSP00000350578.3:p.Met703Leu
ENST00000358918.7:c.2110A>C ENSP00000351796.3:p.Met704Leu
ENST00000359726.7:c.1834A>C ENSP00000352760.4:p.Met612Leu
ENST00000439274.6:c.1996A>C ENSP00000398879.2:p.Met666Leu
ENST00000440126.7:c.2092A>C ENSP00000387483.2:p.Met698Leu
ENST00000464867.1:n.511A>C
NM_000484.3:c.2164A>C NP_000475.1:p.Met722Leu
NM_001136016.3:c.2092A>C NP_001129488.1:p.Met698Leu
NM_001136129.2:c.1771A>C NP_001129601.1:p.Met591Leu
NM_001136130.2:c.1996A>C NP_001129602.1:p.Met666Leu
NM_001136131.2:c.1834A>C NP_001129603.1:p.Met612Leu
NM_001204301.1:c.2110A>C NP_001191230.1:p.Met704Leu
NM_001204302.1:c.2053A>C NP_001191231.1:p.Met685Leu
NM_001204303.1:c.1885A>C NP_001191232.1:p.Met629Leu
NM_201413.2:c.2107A>C NP_958816.1:p.Met703Leu
NM_201414.2:c.1939A>C NP_958817.1:p.Met647Leu
NM_000484.4:c.2164A>C MANE Select NP_000475.1:p.Met722Leu
NM_001136129.3:c.1771A>C NP_001129601.1:p.Met591Leu
NM_001136130.3:c.1996A>C NP_001129602.1:p.Met666Leu
NM_001204301.2:c.2110A>C NP_001191230.1:p.Met704Leu
NM_001204302.2:c.2053A>C NP_001191231.1:p.Met685Leu
NM_001204303.2:c.1885A>C NP_001191232.1:p.Met629Leu
NM_201413.3:c.2107A>C NP_958816.1:p.Met703Leu
NM_201414.3:c.1939A>C NP_958817.1:p.Met647Leu
NM_001136131.3:c.1834A>C NP_001129603.1:p.Met612Leu
NM_001385253.1:c.1996A>C NP_001372182.1:p.Met666Leu