Canonical Allele Identifier: CA3243796649
Community Standard Title: NM_000484.4(APP):c.2157C= (p.Thr719=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891776G= , CM000683.2:g.25891776G= GRCh38
NC_000021.8:g.27264088G= , CM000683.1:g.27264088G= GRCh37
NC_000021.7:g.26185959G= NCBI36
NG_007376.1:g.284045C=
NG_007376.2:g.284353C=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2157C= MANE Select NP_000475.1:p.Thr719=
ENST00000346798.8:c.2157C= MANE Select ENSP00000284981.4:p.Thr719=
NM_000484.3:c.2157C= NP_000475.1:p.Thr719=
NM_001136016.3:c.2085C= NP_001129488.1:p.Thr695=
NM_001136129.2:c.1764C= NP_001129601.1:p.Thr588=
NM_001136129.3:c.1764C= NP_001129601.1:p.Thr588=
NM_001136130.2:c.1989C= NP_001129602.1:p.Thr663=
NM_001136130.3:c.1989C= NP_001129602.1:p.Thr663=
NM_001136131.2:c.1827C= NP_001129603.1:p.Thr609=
NM_001136131.3:c.1827C= NP_001129603.1:p.Thr609=
NM_001204301.1:c.2103C= NP_001191230.1:p.Thr701=
NM_001204301.2:c.2103C= NP_001191230.1:p.Thr701=
NM_001204302.1:c.2046C= NP_001191231.1:p.Thr682=
NM_001204302.2:c.2046C= NP_001191231.1:p.Thr682=
NM_001204303.1:c.1878C= NP_001191232.1:p.Thr626=
NM_001204303.2:c.1878C= NP_001191232.1:p.Thr626=
NM_001385253.1:c.1989C= NP_001372182.1:p.Thr663=
NM_201413.2:c.2100C= NP_958816.1:p.Thr700=
NM_201413.3:c.2100C= NP_958816.1:p.Thr700=
NM_201414.2:c.1932C= NP_958817.1:p.Thr644=
NM_201414.3:c.1932C= NP_958817.1:p.Thr644=
ENST00000346798.7:c.2157C= ENSP00000284981.4:p.Thr719=
ENST00000348990.9:c.1932C= ENSP00000345463.5:p.Thr644=
ENST00000354192.7:c.1764C= ENSP00000346129.3:p.Thr588=
ENST00000357903.7:c.2100C= ENSP00000350578.3:p.Thr700=
ENST00000358918.7:c.2103C= ENSP00000351796.3:p.Thr701=
ENST00000359726.7:c.1827C= ENSP00000352760.4:p.Thr609=
ENST00000439274.6:c.1989C= ENSP00000398879.2:p.Thr663=
ENST00000440126.7:c.2085C= ENSP00000387483.2:p.Thr695=
ENST00000464867.1:n.504C=
ENST00000707132.1:n.2124C=
ENST00000707133.1:n.554C=
ENST00000707134.1:n.823C=