Canonical Allele Identifier: CA511685992
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264091G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891779G>A , CM000683.2:g.25891779G>A GRCh38
NC_000021.8:g.27264091G>A , CM000683.1:g.27264091G>A GRCh37
NC_000021.7:g.26185962G>A NCBI36
NG_007376.1:g.284042C>T
NG_007376.2:g.284350C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2154C>T MANE Select ENSP00000284981.4:p.Ile718=
ENST00000346798.7:c.2154C>T ENSP00000284981.4:p.Ile718=
ENST00000348990.9:c.1929C>T ENSP00000345463.5:p.Ile643=
ENST00000354192.7:c.1761C>T ENSP00000346129.3:p.Ile587=
ENST00000357903.7:c.2097C>T ENSP00000350578.3:p.Ile699=
ENST00000358918.7:c.2100C>T ENSP00000351796.3:p.Ile700=
ENST00000359726.7:c.1824C>T ENSP00000352760.4:p.Ile608=
ENST00000439274.6:c.1986C>T ENSP00000398879.2:p.Ile662=
ENST00000440126.7:c.2082C>T ENSP00000387483.2:p.Ile694=
ENST00000464867.1:n.501C>T
NM_000484.3:c.2154C>T NP_000475.1:p.Ile718=
NM_001136016.3:c.2082C>T NP_001129488.1:p.Ile694=
NM_001136129.2:c.1761C>T NP_001129601.1:p.Ile587=
NM_001136130.2:c.1986C>T NP_001129602.1:p.Ile662=
NM_001136131.2:c.1824C>T NP_001129603.1:p.Ile608=
NM_001204301.1:c.2100C>T NP_001191230.1:p.Ile700=
NM_001204302.1:c.2043C>T NP_001191231.1:p.Ile681=
NM_001204303.1:c.1875C>T NP_001191232.1:p.Ile625=
NM_201413.2:c.2097C>T NP_958816.1:p.Ile699=
NM_201414.2:c.1929C>T NP_958817.1:p.Ile643=
NM_000484.4:c.2154C>T MANE Select NP_000475.1:p.Ile718=
NM_001136129.3:c.1761C>T NP_001129601.1:p.Ile587=
NM_001136130.3:c.1986C>T NP_001129602.1:p.Ile662=
NM_001204301.2:c.2100C>T NP_001191230.1:p.Ile700=
NM_001204302.2:c.2043C>T NP_001191231.1:p.Ile681=
NM_001204303.2:c.1875C>T NP_001191232.1:p.Ile625=
NM_201413.3:c.2097C>T NP_958816.1:p.Ile699=
NM_201414.3:c.1929C>T NP_958817.1:p.Ile643=
NM_001136131.3:c.1824C>T NP_001129603.1:p.Ile608=
NM_001385253.1:c.1986C>T NP_001372182.1:p.Ile662=