Canonical Allele Identifier: CA3243796639
Community Standard Title: NM_000484.4(APP):c.2191A= (p.Ile731=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891742T= , CM000683.2:g.25891742T= GRCh38
NC_000021.8:g.27264054T= , CM000683.1:g.27264054T= GRCh37
NC_000021.7:g.26185925T= NCBI36
NG_007376.1:g.284079A=
NG_007376.2:g.284387A=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2191A= MANE Select NP_000475.1:p.Ile731=
ENST00000346798.8:c.2191A= MANE Select ENSP00000284981.4:p.Ile731=
NM_000484.3:c.2191A= NP_000475.1:p.Ile731=
NM_001136016.3:c.2119A= NP_001129488.1:p.Ile707=
NM_001136129.2:c.1798A= NP_001129601.1:p.Ile600=
NM_001136129.3:c.1798A= NP_001129601.1:p.Ile600=
NM_001136130.2:c.2023A= NP_001129602.1:p.Ile675=
NM_001136130.3:c.2023A= NP_001129602.1:p.Ile675=
NM_001136131.2:c.1861A= NP_001129603.1:p.Ile621=
NM_001136131.3:c.1861A= NP_001129603.1:p.Ile621=
NM_001204301.1:c.2137A= NP_001191230.1:p.Ile713=
NM_001204301.2:c.2137A= NP_001191230.1:p.Ile713=
NM_001204302.1:c.2080A= NP_001191231.1:p.Ile694=
NM_001204302.2:c.2080A= NP_001191231.1:p.Ile694=
NM_001204303.1:c.1912A= NP_001191232.1:p.Ile638=
NM_001204303.2:c.1912A= NP_001191232.1:p.Ile638=
NM_001385253.1:c.2023A= NP_001372182.1:p.Ile675=
NM_201413.2:c.2134A= NP_958816.1:p.Ile712=
NM_201413.3:c.2134A= NP_958816.1:p.Ile712=
NM_201414.2:c.1966A= NP_958817.1:p.Ile656=
NM_201414.3:c.1966A= NP_958817.1:p.Ile656=
ENST00000346798.7:c.2191A= ENSP00000284981.4:p.Ile731=
ENST00000348990.9:c.1966A= ENSP00000345463.5:p.Ile656=
ENST00000354192.7:c.1798A= ENSP00000346129.3:p.Ile600=
ENST00000357903.7:c.2134A= ENSP00000350578.3:p.Ile712=
ENST00000358918.7:c.2137A= ENSP00000351796.3:p.Ile713=
ENST00000359726.7:c.1861A= ENSP00000352760.4:p.Ile621=
ENST00000439274.6:c.2023A= ENSP00000398879.2:p.Ile675=
ENST00000440126.7:c.2119A= ENSP00000387483.2:p.Ile707=
ENST00000464867.1:n.538A=
ENST00000707132.1:n.2158A=
ENST00000707133.1:n.588A=
ENST00000707134.1:n.857A=