Canonical Allele Identifier: CA511686173
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269921T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897609T>A , CM000683.2:g.25897609T>A GRCh38
NC_000021.8:g.27269921T>A , CM000683.1:g.27269921T>A GRCh37
NC_000021.7:g.26191792T>A NCBI36
NG_007376.1:g.278212A>T
NG_007376.2:g.278520A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.1995A>T
ENST00000707133.1:n.425A>T
ENST00000707134.1:n.694A>T
ENST00000346798.8:c.2028A>T MANE Select ENSP00000284981.4:p.Arg676=
ENST00000346798.7:c.2028A>T ENSP00000284981.4:p.Arg676=
ENST00000348990.9:c.1803A>T ENSP00000345463.5:p.Arg601=
ENST00000354192.7:c.1635A>T ENSP00000346129.3:p.Arg545=
ENST00000357903.7:c.1971A>T ENSP00000350578.3:p.Arg657=
ENST00000358918.7:c.1974A>T ENSP00000351796.3:p.Arg658=
ENST00000359726.7:c.1698A>T ENSP00000352760.4:p.Arg566=
ENST00000439274.6:c.1860A>T ENSP00000398879.2:p.Arg620=
ENST00000440126.7:c.1956A>T ENSP00000387483.2:p.Arg652=
ENST00000464867.1:n.375A>T
NM_000484.3:c.2028A>T NP_000475.1:p.Arg676=
NM_001136016.3:c.1956A>T NP_001129488.1:p.Arg652=
NM_001136129.2:c.1635A>T NP_001129601.1:p.Arg545=
NM_001136130.2:c.1860A>T NP_001129602.1:p.Arg620=
NM_001136131.2:c.1698A>T NP_001129603.1:p.Arg566=
NM_001204301.1:c.1974A>T NP_001191230.1:p.Arg658=
NM_001204302.1:c.1917A>T NP_001191231.1:p.Arg639=
NM_001204303.1:c.1749A>T NP_001191232.1:p.Arg583=
NM_201413.2:c.1971A>T NP_958816.1:p.Arg657=
NM_201414.2:c.1803A>T NP_958817.1:p.Arg601=
NM_000484.4:c.2028A>T MANE Select NP_000475.1:p.Arg676=
NM_001136129.3:c.1635A>T NP_001129601.1:p.Arg545=
NM_001136130.3:c.1860A>T NP_001129602.1:p.Arg620=
NM_001204301.2:c.1974A>T NP_001191230.1:p.Arg658=
NM_001204302.2:c.1917A>T NP_001191231.1:p.Arg639=
NM_001204303.2:c.1749A>T NP_001191232.1:p.Arg583=
NM_201413.3:c.1971A>T NP_958816.1:p.Arg657=
NM_201414.3:c.1803A>T NP_958817.1:p.Arg601=
NM_001136131.3:c.1698A>T NP_001129603.1:p.Arg566=
NM_001385253.1:c.1860A>T NP_001372182.1:p.Arg620=