Canonical Allele Identifier: CA511686286
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27269954C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897642C>T , CM000683.2:g.25897642C>T GRCh38
NC_000021.8:g.27269954C>T , CM000683.1:g.27269954C>T GRCh37
NC_000021.7:g.26191825C>T NCBI36
NG_007376.1:g.278179G>A
NG_007376.2:g.278487G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1962G>A
ENST00000707133.1:n.392G>A
ENST00000707134.1:n.661G>A
ENST00000346798.8:c.1995G>A MANE Select ENSP00000284981.4:p.Glu665=
ENST00000346798.7:c.1995G>A ENSP00000284981.4:p.Glu665=
ENST00000348990.9:c.1770G>A ENSP00000345463.5:p.Glu590=
ENST00000354192.7:c.1602G>A ENSP00000346129.3:p.Glu534=
ENST00000357903.7:c.1938G>A ENSP00000350578.3:p.Glu646=
ENST00000358918.7:c.1941G>A ENSP00000351796.3:p.Glu647=
ENST00000359726.7:c.1665G>A ENSP00000352760.4:p.Glu555=
ENST00000439274.6:c.1827G>A ENSP00000398879.2:p.Glu609=
ENST00000440126.7:c.1923G>A ENSP00000387483.2:p.Glu641=
ENST00000464867.1:n.342G>A
NM_000484.3:c.1995G>A NP_000475.1:p.Glu665=
NM_001136016.3:c.1923G>A NP_001129488.1:p.Glu641=
NM_001136129.2:c.1602G>A NP_001129601.1:p.Glu534=
NM_001136130.2:c.1827G>A NP_001129602.1:p.Glu609=
NM_001136131.2:c.1665G>A NP_001129603.1:p.Glu555=
NM_001204301.1:c.1941G>A NP_001191230.1:p.Glu647=
NM_001204302.1:c.1884G>A NP_001191231.1:p.Glu628=
NM_001204303.1:c.1716G>A NP_001191232.1:p.Glu572=
NM_201413.2:c.1938G>A NP_958816.1:p.Glu646=
NM_201414.2:c.1770G>A NP_958817.1:p.Glu590=
NM_000484.4:c.1995G>A MANE Select NP_000475.1:p.Glu665=
NM_001136129.3:c.1602G>A NP_001129601.1:p.Glu534=
NM_001136130.3:c.1827G>A NP_001129602.1:p.Glu609=
NM_001204301.2:c.1941G>A NP_001191230.1:p.Glu647=
NM_001204302.2:c.1884G>A NP_001191231.1:p.Glu628=
NM_001204303.2:c.1716G>A NP_001191232.1:p.Glu572=
NM_201413.3:c.1938G>A NP_958816.1:p.Glu646=
NM_201414.3:c.1770G>A NP_958817.1:p.Glu590=
NM_001136131.3:c.1665G>A NP_001129603.1:p.Glu555=
NM_001385253.1:c.1827G>A NP_001372182.1:p.Glu609=