Canonical Allele Identifier: CA409805604
Community Standard Title: NM_000484.4(APP):c.2117T>A (p.Met706Lys)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891816A>T , CM000683.2:g.25891816A>T GRCh38
NC_000021.8:g.27264128A>T , CM000683.1:g.27264128A>T GRCh37
NC_000021.7:g.26185999A>T NCBI36
NG_007376.1:g.284005T>A
NG_007376.2:g.284313T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2117T>A MANE Select NP_000475.1:p.Met706Lys
ENST00000346798.8:c.2117T>A MANE Select ENSP00000284981.4:p.Met706Lys
NM_000484.3:c.2117T>A NP_000475.1:p.Met706Lys
NM_001136016.3:c.2045T>A NP_001129488.1:p.Met682Lys
NM_001136129.2:c.1724T>A NP_001129601.1:p.Met575Lys
NM_001136129.3:c.1724T>A NP_001129601.1:p.Met575Lys
NM_001136130.2:c.1949T>A NP_001129602.1:p.Met650Lys
NM_001136130.3:c.1949T>A NP_001129602.1:p.Met650Lys
NM_001136131.2:c.1787T>A NP_001129603.1:p.Met596Lys
NM_001136131.3:c.1787T>A NP_001129603.1:p.Met596Lys
NM_001204301.1:c.2063T>A NP_001191230.1:p.Met688Lys
NM_001204301.2:c.2063T>A NP_001191230.1:p.Met688Lys
NM_001204302.1:c.2006T>A NP_001191231.1:p.Met669Lys
NM_001204302.2:c.2006T>A NP_001191231.1:p.Met669Lys
NM_001204303.1:c.1838T>A NP_001191232.1:p.Met613Lys
NM_001204303.2:c.1838T>A NP_001191232.1:p.Met613Lys
NM_001385253.1:c.1949T>A NP_001372182.1:p.Met650Lys
NM_201413.2:c.2060T>A NP_958816.1:p.Met687Lys
NM_201413.3:c.2060T>A NP_958816.1:p.Met687Lys
NM_201414.2:c.1892T>A NP_958817.1:p.Met631Lys
NM_201414.3:c.1892T>A NP_958817.1:p.Met631Lys
ENST00000346798.7:c.2117T>A ENSP00000284981.4:p.Met706Lys
ENST00000348990.9:c.1892T>A ENSP00000345463.5:p.Met631Lys
ENST00000354192.7:c.1724T>A ENSP00000346129.3:p.Met575Lys
ENST00000357903.7:c.2060T>A ENSP00000350578.3:p.Met687Lys
ENST00000358918.7:c.2063T>A ENSP00000351796.3:p.Met688Lys
ENST00000359726.7:c.1787T>A ENSP00000352760.4:p.Met596Lys
ENST00000439274.6:c.1949T>A ENSP00000398879.2:p.Met650Lys
ENST00000440126.7:c.2045T>A ENSP00000387483.2:p.Met682Lys
ENST00000464867.1:n.464T>A
ENST00000707132.1:n.2084T>A
ENST00000707133.1:n.514T>A
ENST00000707134.1:n.783T>A