Canonical Allele Identifier: CA3243796647
Community Standard Title: NM_000484.4(APP):c.2164A= (p.Met722=)
Gene: APP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2164A= MANE Select NP_000475.1:p.Met722=
ENST00000346798.8:c.2164A= MANE Select ENSP00000284981.4:p.Met722=
NM_000484.3:c.2164A= NP_000475.1:p.Met722=
NM_001136016.3:c.2092A= NP_001129488.1:p.Met698=
NM_001136129.2:c.1771A= NP_001129601.1:p.Met591=
NM_001136129.3:c.1771A= NP_001129601.1:p.Met591=
NM_001136130.2:c.1996A= NP_001129602.1:p.Met666=
NM_001136130.3:c.1996A= NP_001129602.1:p.Met666=
NM_001136131.2:c.1834A= NP_001129603.1:p.Met612=
NM_001136131.3:c.1834A= NP_001129603.1:p.Met612=
NM_001204301.1:c.2110A= NP_001191230.1:p.Met704=
NM_001204301.2:c.2110A= NP_001191230.1:p.Met704=
NM_001204302.1:c.2053A= NP_001191231.1:p.Met685=
NM_001204302.2:c.2053A= NP_001191231.1:p.Met685=
NM_001204303.1:c.1885A= NP_001191232.1:p.Met629=
NM_001204303.2:c.1885A= NP_001191232.1:p.Met629=
NM_001385253.1:c.1996A= NP_001372182.1:p.Met666=
NM_201413.2:c.2107A= NP_958816.1:p.Met703=
NM_201413.3:c.2107A= NP_958816.1:p.Met703=
NM_201414.2:c.1939A= NP_958817.1:p.Met647=
NM_201414.3:c.1939A= NP_958817.1:p.Met647=
ENST00000346798.7:c.2164A= ENSP00000284981.4:p.Met722=
ENST00000348990.9:c.1939A= ENSP00000345463.5:p.Met647=
ENST00000354192.7:c.1771A= ENSP00000346129.3:p.Met591=
ENST00000357903.7:c.2107A= ENSP00000350578.3:p.Met703=
ENST00000358918.7:c.2110A= ENSP00000351796.3:p.Met704=
ENST00000359726.7:c.1834A= ENSP00000352760.4:p.Met612=
ENST00000439274.6:c.1996A= ENSP00000398879.2:p.Met666=
ENST00000440126.7:c.2092A= ENSP00000387483.2:p.Met698=
ENST00000464867.1:n.511A=
ENST00000707132.1:n.2131A=
ENST00000707133.1:n.561A=
ENST00000707134.1:n.830A=