Canonical Allele Identifier: CA3243796655
Community Standard Title: NM_000484.4(APP):c.2118G= (p.Met706=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891815C= , CM000683.2:g.25891815C= GRCh38
NC_000021.8:g.27264127C= , CM000683.1:g.27264127C= GRCh37
NC_000021.7:g.26185998C= NCBI36
NG_007376.1:g.284006G=
NG_007376.2:g.284314G=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2118G= MANE Select NP_000475.1:p.Met706=
ENST00000346798.8:c.2118G= MANE Select ENSP00000284981.4:p.Met706=
NM_000484.3:c.2118G= NP_000475.1:p.Met706=
NM_001136016.3:c.2046G= NP_001129488.1:p.Met682=
NM_001136129.2:c.1725G= NP_001129601.1:p.Met575=
NM_001136129.3:c.1725G= NP_001129601.1:p.Met575=
NM_001136130.2:c.1950G= NP_001129602.1:p.Met650=
NM_001136130.3:c.1950G= NP_001129602.1:p.Met650=
NM_001136131.2:c.1788G= NP_001129603.1:p.Met596=
NM_001136131.3:c.1788G= NP_001129603.1:p.Met596=
NM_001204301.1:c.2064G= NP_001191230.1:p.Met688=
NM_001204301.2:c.2064G= NP_001191230.1:p.Met688=
NM_001204302.1:c.2007G= NP_001191231.1:p.Met669=
NM_001204302.2:c.2007G= NP_001191231.1:p.Met669=
NM_001204303.1:c.1839G= NP_001191232.1:p.Met613=
NM_001204303.2:c.1839G= NP_001191232.1:p.Met613=
NM_001385253.1:c.1950G= NP_001372182.1:p.Met650=
NM_201413.2:c.2061G= NP_958816.1:p.Met687=
NM_201413.3:c.2061G= NP_958816.1:p.Met687=
NM_201414.2:c.1893G= NP_958817.1:p.Met631=
NM_201414.3:c.1893G= NP_958817.1:p.Met631=
ENST00000346798.7:c.2118G= ENSP00000284981.4:p.Met706=
ENST00000348990.9:c.1893G= ENSP00000345463.5:p.Met631=
ENST00000354192.7:c.1725G= ENSP00000346129.3:p.Met575=
ENST00000357903.7:c.2061G= ENSP00000350578.3:p.Met687=
ENST00000358918.7:c.2064G= ENSP00000351796.3:p.Met688=
ENST00000359726.7:c.1788G= ENSP00000352760.4:p.Met596=
ENST00000439274.6:c.1950G= ENSP00000398879.2:p.Met650=
ENST00000440126.7:c.2046G= ENSP00000387483.2:p.Met682=
ENST00000464867.1:n.465G=
ENST00000707132.1:n.2085G=
ENST00000707133.1:n.515G=
ENST00000707134.1:n.784G=