Canonical Allele Identifier: CA511685989
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264088G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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